RGD:38477074 Rat Genome Database

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Variant: RGD:38477074 -  Homo sapiens

RGD ID: 38477074
RS ID: rs1928500368
ClinVar ID: CV951701
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,690,186
GRCh38 X 18,672,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_702t1:c.3G>A
NM_000330.4:c.3G>A
LRG_702:g.10383G>A
NG_008659.3:g.10383G>A
More... 		08/29/2022 initiatior codon variant|initiator_codon_variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ISRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:XM_047442337
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26823236   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001233338 CLINVAR
dbSNP (RS) rs1928500368 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RS1 CLINVAR
OMIM 300839 CLINVAR