chr1:216420527:G>A Detail (hg19) (USH2A)

Information

Genome

Assembly Position
hg19 chr1:216,420,527-216,420,527
hg38 chr1:216,247,185-216,247,185 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_206933.2:c.2209C>T NP_996816.2:p.Arg737Ter
NM_007123.5:c.2209C>T NP_009054.5:p.Arg737Ter
Ensemble ENST00000674083.1:c.2209C>T ENST00000674083.1:p.Arg737Ter
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:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 608400 OMIM
HGNC 12601 HGNC
Ensembl ENSG00000042781 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4946900 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-29 criteria provided, multiple submitters, no conflicts Usher syndrome type 2A germline Detail
Pathogenic 2023-09-11 criteria provided, single submitter retinitis pigmentosa 39 germline unknown Detail
Pathogenic 2023-09-08 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2009-11-10 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2019-06-23 no assertion criteria provided Usher syndrome type 2 inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 USHER SYNDROME, TYPE IIA NA CLINVAR Detail
0.240 RETINITIS PIGMENTOSA 39 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND Usher syndrome type 2A ClinVar Detail
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND Retinitis pigmentosa 39 ClinVar Detail
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND not provided ClinVar Detail
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND Rare genetic deafness ClinVar Detail
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) AND Usher syndrome type 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs111033334 dbSNP
Genome
hg19
Position
chr1:216,420,527-216,420,527
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8572
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120028
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.331389342486753E-6
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