RGD:11605714 Rat Genome Database

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Variant: RGD:11605714 -  Homo sapiens

RGD ID: 11605714
RS ID: rs1057515624
ClinVar ID: CV319072
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMC1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 75,445,441
GRCh38 9 72,830,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008213.1:g.313725A>C
NC_000009.12:g.72830525A>C
NC_000009.11:g.75445441A>C
NP_619636.2:p.Lys735Thr
More...
01/13/2018 missense variant uncertain significance Deafness, autosomal dominant 36; DEAFNESS, AUTOSOMAL RECESSIVE 11; Deafness, autosomal recessive 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMC1
Accession:NM_138691
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 735
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGAE
EEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDF
ENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF
GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFTS
WDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDT
LGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT
LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWD
LEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGML
LLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA
KGQKAANLDLKKKMTMQALENKMRNKKMAAARAAAAAGRQ*

Gene Symbol:TMC1
Accession:XM_017014256
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 736
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKSKMIQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGA
EEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRD
FENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAAN
FGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFT
SWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPD
TLGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANI
TLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCW
DLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGM
LLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNAT
AKGQKAANLDLKKKMTMQALENKMRNKKMAAARAAAAAGRQ*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000322877 CLINVAR
  RCV000382265 CLINVAR
dbSNP (RS) rs1057515624 CLINVAR
MedGen C1832978 CLINVAR
  C1847626 CLINVAR
NCBI Gene TMC1 CLINVAR
OMIM 600974 CLINVAR
  606705 CLINVAR
  606706 CLINVAR