RGD:155927917 Rat Genome Database

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Variant: RGD:155927917 -  Homo sapiens

RGD ID: 155927917
ClinVar ID: CV2391577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERVFRD-1  SMIM13  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 11,104,738
GRCh38 6 11,104,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135575.2:c.76+10116A>G
NM_207582.3:c.806T>C
NC_000006.12:g.11104505A>G
NC_000006.11:g.11104738A>G
More... 		04/13/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ERVFRD-1
Accession:NM_207582
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLLLVLILTPSLAAYRHPDFPLLEKAQQLLQSTGSPYSTNCWLCTSSSTETPGTAYPASPREWTSIEAELHISYRWDP
NLKGLMRPANSLLSTVKQDFPDIRQKPPIFGPIFTNINLMGIAPICVMAKRKNGTNVGTLPSTVCNVTFTVDSNQQTYQT
YTHNQFRHQPRFPKPPNITFPQGTLLDKSSRFCQGRPSSCSTRNFWFRPADYNQCLQISNLSSTAEWVLLDQTRNSLFWE
NKTKGANQSQTPCVQVLAGMTIATSYLGRSAVSEFFGTSLTPLFHFHISTCLKTQGAFYICGQSIHQCLPSNWTGTCTIG
YVTPDIFIAPGNLSLPIPIYGNSPLPRVRRAIHFIPLLAGLGILAGTGTGIAGITKASLTYSQLSKEIANNIDTMAKALT
TMQEQIDSLAAVVLQNRRGLDMLTAAQGGICLALDEKCCFWVNQSGKVQDNIRQLLNQASSLRERATQGWLNWEGTWKWF
SWVLPLTGPLVSLLLLLLFGPCLLNLITQFVSSRLQAIKLQTNLSAGRHPRNIQESPF*

Gene Symbol:SMIM13
Accession:NM_001135575
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004239956 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ERVFRD-1 CLINVAR
  SMIM13 CLINVAR
OMIM 610524 CLINVAR