NM_080680.3
1708342584 - Nucleotide Result - NCBI
Homo sapiens collagen type XI alpha 2 chain (COL11A2), transcript variant 1, mRNA 6,422 bp linear mRNA NM_080680.3 GI:1708342584.
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) AND ... - NCBI
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive ; Germline classification: Uncertain significance (1 ...
COL11A2(NM_080680.3):c.2179G>C SNV | hg19 - VarSome
Classify. Share. API Link. Favorites. Notes. General InformationSNV. COL11A2(NM_080680.3):c.2179G>C. p.(Gly727Arg). Genes. COL11A2. Community Contributions.
Submissions for variant NM_080680.3(COL11A2):c.3690+18G>C ...
Submissions for variant NM_080680.3(COL11A2):c.3690+18G>C ... The information on this website is not intended for direct diagnostic use or medical decision-making ...
Submissions for variant NM_080680.3(COL11A2):c.3174G>A (p ...
Submissions for variant NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) gnomAD frequency: 0.50179 dbSNP: rs1799910. Minimum review status criteria ...
HGVS Expressions. NG_011589.1:g.24374G>C; NM_080680.3:c.2755G>C; NP_542411.2:p.Gly919Arg; NC_000006.12:g.33173095C>G ...
Human Gene COL11A2 (ENST00000341947.7) from GENCODE V47
... NM_080680.3) Gencode Transcript: ENST00000341947.7. Gencode Gene ... 6, hCG_2039805 , NM_080680, uc003ocx.1, uc003ocx.2. UCSC ID: ENST00000341947.7 RefSeq ...
c.1360-7A>C (COL11A2)) - Global Variome shared LOVD
COL11A2(NM_080680.2):c.1360-7A>C, COL11A2(NM_080680.3):c.1360-7A>C. ISCN, -. DB-ID, COL11A2_000047 See all 4 reported entries. Variant remarks ...
All variants in the COL11A2 gene - Global Variome shared LOVD
L208=), COL11A2(NM_080680.3):c.622C>T (p.L208=) -, COL11A2_000055, VKGL data sharing initiative Nederland, -, -, -, CLASSIFICATION ...
chr6:33137233:G>A Detail (hg19) (COL11A2) - Variant Detail ...
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) AND Otospondylomegaepiphyseal dysplasia, autosomal rec... ClinVar · Detail. NM_080680.3(COL11A2):c.3725C>T (p ...
Tab - Deafness Variation Database
... NM_080680.3 NM_080680.3:c.*978C>T \N \N 66/66 \N Unknown significance \N 3_prime_UTR_variant MODIFIER \N \N 10.91 0.000115048 gnomad_AF_afr_pass COL11A2 ...
HGVS Expressions. NG_011589.1:g.19151dup; NM_080680.3:c.1808dup; NP_542411.2:p.Gly604TrpfsTer132; NC_000006.12:g.33178319dup ...
Deafness, Autosomal Recessive 53 (DFNB53) - MalaCards
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) SNV, Likely Benign · 1613061 · rs765931315. GRCh37: 6:33,133,489-33,133,489; GRCh38: 6 ...
Collagen XI alpha 2 (COL11A2) (NM_080680) Human ... - OriGene
View other "Collagen XI alpha 2" proteins (3). Special Offer: Get a 20 ... NM_080680, NP_542411. Other Names, DFNA13; DFNB53; FBCG2; HKE5; OSMEDA; OSMEDB ...
CNV analysis in exon 3 will not be performed. CLDN14. NM_144492.3. -. -. Page 2 ... NM_080680.3. -. -. COL2A1. NM_001844.5. -. -. COL4A3. NM_000091.5. -. -.
chr6:33175679:G>A Detail (hg38) (COL11A2) - Variant Detail ...
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) AND Otospondylomegaepiphyseal dysplasia, autosomal domina... ClinVar · Detail. NM_080680.3(COL11A2):c.2271C> ...
COL11A2 (collagen type XI alpha 2 chain) - Rat Genome Database
... NM_080680.3(COL11A2):c.1851A>G (p.Pro617=) single nucleotide variant, not provided [RCV001698409], Chr6:33178153 [GRCh38] Chr6:33145930 [GRCh37] Chr6:6p21.32 ...
COL11A2 - Homo sapiens (Human) | UniProtKB | UniProt
2 NM_080680.3 NP_542411.2. Similar Proteins. Disclaimer. Any medical or genetic information present in this entry is provided for research, educational and ...
Deafness, Autosomal Dominant 13 (DFNA13) - MalaCards
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) SNV, Likely Benign · 1613061 · rs765931315. GRCh37: 6 ...
Presentazione standard di PowerPoint - Frontiers
NM_080680.3: c.889G>C, p.(Gly297Arg), NA, AD/AR, 0.000007735. 3, MYH11, NM_002474.3 ... III. IV. V. I. II. III. IV. V. 2. CASE ID 13. CASE ID 11.