RGD:13782431 Rat Genome Database

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Variant: RGD:13782431 -  Homo sapiens

RGD ID: 13782431
RS ID: rs554073390
ClinVar ID: CV546440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO7A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 76,895,759
GRCh38 11 77,184,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369365.1:c.3469C>T
NM_001127180.2:c.3502C>T
NG_009086.2:g.61469C>T
NM_001127180.1:c.3502C>T
More... 		01/01/2023 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic deafness; Deafness, autosomal dominant 11; Deafness, autosomal recessive; Deafness, autosomal recessive 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; none provided; Retinitis pigmentosa and congenital deafness; Usher syndrome type 1; Usher syndrome, type I, French variety

Variant Details
Variant Transcripts
Gene Symbol:MYO7A
Accession:XM_017017784
Location:EXON

Gene Symbol:MYO7A
Accession:NM_000260
Location:EXON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:EXON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:EXON

Gene Symbol:MYO7A
Accession:XM_047426973
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:EXON

Gene Symbol:MYO7A
Accession:XM_011545046
Location:EXON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:EXON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:EXON

Gene Symbol:MYO7A
Accession:XM_047426972
Location:EXON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:EXON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:EXON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017780
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:EXON

Gene Symbol:MYO7A
Accession:XM_017017787
Location:EXON

Gene Symbol:MYO7A
Accession:XR_001747889
Location:EXON;NON-CODING

Gene Symbol:MYO7A
Accession:XR_001747888
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20052763   PMID:21311020   PMID:21436283   PMID:25741868   PMID:28492532   PMID:30303587   PMID:33187236  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668846 CLINVAR
  RCV000790513 CLINVAR
  RCV001242948 CLINVAR
  RCV001291475 CLINVAR
  RCV003420184 CLINVAR
dbSNP (RS) rs554073390 CLINVAR
MedGen C1832475 CLINVAR
  C1838701 CLINVAR
  C1846647 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276900 CLINVAR
  276903 CLINVAR
  600060 CLINVAR
  601317 CLINVAR
  607197 CLINVAR