RGD:28877953 Rat Genome Database

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Variant: RGD:28877953 -  Homo sapiens

RGD ID: 28877953
RS ID: rs140437301
ClinVar ID: CV902295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 75,303,654
GRCh38 9 72,688,738
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.75303654G>A
NM_138691.2:c.46G>A
NM_138691.3:c.46G>A
NG_008213.1:g.171938G>A
More... 		01/06/2022 missense variant uncertain significance AllHighlyPenetrant; Deafness, autosomal dominant 36; 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:NM_138691
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPKKVQIKVEEKEDKTEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGAE
EEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDF
ENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF
GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFTS
WDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDT
LGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT
LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWD
LEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGML
LLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA
KGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ*

Gene Symbol:TMC1
Accession:XM_017014256
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKSKMIQIKVEEKEDKTEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGA
EEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRD
FENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAAN
FGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFT
SWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPD
TLGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANI
TLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCW
DLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGM
LLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNAT
AKGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001166567 CLINVAR
  RCV001166568 CLINVAR
  RCV001195528 CLINVAR
  RCV001358325 CLINVAR
dbSNP (RS) rs140437301 CLINVAR
MedGen C1832978 CLINVAR
  C1847626 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene TMC1 CLINVAR
OMIM 600974 CLINVAR
  606705 CLINVAR
  606706 CLINVAR