NM_080680.3:c.2755G>C

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 ...

NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr) AND not ... - NCBI

NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr) AND not specified. Germline classification: Uncertain significance (1 submission); Last evaluated ...

Collagen, Type XI, Alpha-2 - CAGS

NG_011589.1:g.24374G>C; NM_080680.3:c.2755G>C; NP_542411.2:p.Gly919Arg, 956025660 · NM_080680.3:c.966dup, United Arab Emirates, NC_000006.12:g.33184304dup ...

List of variants in gene COL11A2 reported as uncertain significance

Pro1464=) rs372419316, 0.00009. NM_080680.3(COL11A2):c.*429G>T, rs760188928, 0.00008. NM_080680.3(COL11A2) ...

COL11A2 (collagen type XI alpha 2 chain) - Rat Genome Database

NM_080680.3(COL11A2):c.4821A>C (p.Ala1607=) single nucleotide variant, not ... 2755G>A (p.Gly919Ser), single nucleotide variant, not provided ...

NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) AND ... - NCBI

3(COL11A2):c.353G>C (p.Arg118Pro) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive. Germline classification: Likely benign (1 ...

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 ...

Download all data - datab ases.lovd.nl

... 3" "no" "NG_011589.1" "UD_132118643235" "" "http://www.LOVD.nl/COL11A2 ... NM_080680.2" "" "NP_542411.2" "" "" "" "-228" "6197" "5211" "33160245 ...

List of variants in gene COL11A2 - ClinVar Miner

4521G>A (p.Gln1507=) rs114580597, 0.00182. NM_080680.3(COL11A2):c.1972-16C>T, rs117435723, 0.00181. NM_080680.

3. A, B, C, D, E, F, G. 1, Supplementary Table 3. Summary of Whole Exome Sequencing ... NM_080680.2, COL11A2, collagen, type XI, alpha 2, Missense, c.1490G>A, p ...

File (31.18 MB)

... 3(OSBPL7):c.1078G>A (p.Asp360Asn),Uncertain significance,17,47816148 ... NM_080680.2(COL11A2):c.3725C>T (p.Ser1242Leu),Conflicting interpretations of ...

Sample ID Candidate Variants Causative Deafness Mutations Prev ...

COL11A2 NM_080680:c.949G>C NM_080680:p.Asp317His;. CDH23 NM_001171933 ... MYO7A NM_001127180:c.2755G>A. NM_001127180:p.Ala919Thr; GJB2 ...

COL11A2(NM_080680.3):c.2179G>C SNV | hg19 - VarSome

searching for variants in Marfan syndrome cases. recruit more evidence of the effect of this variant on the Marfan phenotype.