RGD:11577847 Rat Genome Database

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Variant: RGD:11577847 -  Homo sapiens

RGD ID: 11577847
RS ID: rs367924428
ClinVar ID: CV272121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 75,404,123
GRCh38 9 72,789,207
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008213.1:g.272407G>A
NC_000009.12:g.72789207G>A
NC_000009.11:g.75404123G>A
NP_619636.2:p.Val372Met
More... 		09/17/2021 missense variant likely pathogenic|uncertain significance infancy Autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic deafness; Deafness, autosomal recessive; DEAFNESS, AUTOSOMAL RECESSIVE 11; Deafness, autosomal recessive 7; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMC1
Accession:XM_017014256
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKSKMIQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGA
EEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRD
FENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAAN
FGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFT
SWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFMFLTLGGSGYLIFWAVKRSQEFAQQDPD
TLGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANI
TLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCW
DLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGM
LLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNAT
AKGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ*

Gene Symbol:TMC1
Accession:NM_138691
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 372
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGAE
EEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDF
ENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF
GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFTS
WDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFMFLTLGGSGYLIFWAVKRSQEFAQQDPDT
LGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT
LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWD
LEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGML
LLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA
KGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ*
Variant Samples
Additional References at PubMed
PMID:16134132   PMID:24416283   PMID:24949729   PMID:25491636   PMID:28492532   PMID:30303587  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000268431 CLINVAR
  RCV000778151 CLINVAR
  RCV001291360 CLINVAR
dbSNP (RS) rs367924428 CLINVAR
MedGen C1832978 CLINVAR
  C1846647 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMC1 CLINVAR
OMIM 600974 CLINVAR
  606706 CLINVAR
  607197 CLINVAR