chr11:77214608:G>A Detail (hg38) (MYO7A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:76,925,653-76,925,653 View the variant detail on this assembly version.
hg38	chr11:77,214,608-77,214,608

HGVS

MYO7A

Type	Transcript	Protein
RefSeq	NM_000260.3:c.6560G>A	NP_000251.3:p.Gly2187Asp
	NM_001127180.1:c.6440G>A	NP_001120652.1:p.Gly2147Asp
Ensemble	ENST00000409619.6:c.6413G>A	ENST00000409619.6:p.Gly2138Asp
	ENST00000409709.9:c.6560G>A	ENST00000409709.9:p.Gly2187Asp
	ENST00000458637.6:c.6440G>A	ENST00000458637.6:p.Gly2147Asp

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	Likely pathogenic
Review star
Show details

Links

MYO7A

Type	Database	ID	Link
Gene	MIM	276903	OMIM
	HGNC	7606	HGNC
	Ensembl	ENSG00000137474	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 pathogenic	2022-08-03	reviewed by expert panel	Usher syndrome	germline	Detail
Uncertain significance	2018-04-13	criteria provided, single submitter	Autosomal recessive nonsyndromic hearing loss 2,Usher syndrome type 1	unknown	Detail
Uncertain significance	2018-04-13	criteria provided, single submitter	Autosomal recessive nonsyndromic hearing loss 2,Usher syndrome type 1	unknown	Detail
Likely pathogenic	2020-09-16	no assertion criteria provided	Usher syndrome type 1B	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.326	Usher Syndrome, Type I	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) AND Usher syndrome	ClinVar	Detail
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) AND multiple conditions	ClinVar	Detail
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) AND multiple conditions	ClinVar	Detail
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) AND Usher syndrome type 1B	ClinVar	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: rs397516332 dbSNP
Genome: hg38
Position: chr11:77,214,608-77,214,608
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 1258
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): 29478
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): 3.3923604043693604E-5

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