chr6:33132242:G>A Detail (hg19) (COL11A2)

Information

Genome

Assembly Position
hg19 chr6:33,132,242-33,132,242
hg38 chr6:33,164,465-33,164,465 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_080680.2:c.4872C>T NP_542411.2:p.Tyr1624=
NM_080681.2:c.4614C>T NP_542412.2:p.Tyr1538=
Ensemble ENST00000341947.7:c.4872C>T ENST00000341947.7:p.Tyr1624=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120290 OMIM
HGNC 2187 HGNC
Ensembl ENSG00000204248 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-06-14 criteria provided, single submitter otospondylomegaepiphyseal dysplasia, autosomal dominant germline Detail
Likely benign 2016-06-14 criteria provided, single submitter fibrochondrogenesis 1 germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Stickler Syndrome, Dominant germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Nonsyndromic Hearing Loss, Dominant germline Detail
Likely benign 2016-06-14 criteria provided, single submitter otospondylomegaepiphyseal dysplasia, autosomal recessive germline Detail
Likely benign 2016-06-09 criteria provided, single submitter not specified germline Detail
Likely benign 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND Otospondylomegaepiphyseal dysplasia, autosomal domin... ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND Fibrochondrogenesis 1 ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND Stickler Syndrome, Dominant ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND Nonsyndromic Hearing Loss, Dominant ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND Otospondylomegaepiphyseal dysplasia, autosomal reces... ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND not specified ClinVar Detail
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs372250466 dbSNP
Genome
hg19
Position
chr6:33,132,242-33,132,242
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
1434
East Asian Allele Counts (ExAC)
6
East Asian Heterozygous Counts (ExAC)
6
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0041841004184100415
Chromosome Counts in All Race (ExAC)
22374
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.681684097613301E-4
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