RGD:13783105 Rat Genome Database

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Variant: RGD:13783105 -  Homo sapiens

RGD ID: 13783105
RS ID: rs782292032
ClinVar ID: CV546614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO7A  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 76,858,998
GRCh38 11 77,147,952
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.252+2T>G
NG_009086.2:g.24707T>G
NC_000011.10:g.77147952T>G
NC_000011.9:g.76858998T>G
More... 		06/23/2019 splice donor variant pathogenic|likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Deafness, autosomal dominant 11; 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_017017780
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017784
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426972
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_000260
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426973
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545046
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017787
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:8900236   PMID:16199547   PMID:25404053   PMID:25741868   PMID:28492532   PMID:29490346   PMID:31456290  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000669696 CLINVAR
  RCV000823085 CLINVAR
  RCV001003079 CLINVAR
  RCV002485549 CLINVAR
dbSNP (RS) rs782292032 CLINVAR
MedGen C1568247 CLINVAR
  C1832475 CLINVAR
  C1838701 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276900 CLINVAR
  276903 CLINVAR
  600060 CLINVAR
  601317 CLINVAR