RGD:126914736 Rat Genome Database

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Variant: RGD:126914736 -  Homo sapiens

RGD ID: 126914736
RS ID: rs2141385090
ClinVar ID: CV1038362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFS  ST20-MTHFS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 80,189,227
GRCh38 15 79,896,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199758.1:c.-55+276T>C
NM_006441.4:c.104T>C
NM_001199760.2:c.46-7531T>C
NG_029243.1:g.5401T>C
More... 		intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MTHFS
Accession:NM_001199758
Location:5UTRS;INTRON

Gene Symbol:MTHFS
Accession:NM_006441
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRGLSQKVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFI
PRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRC
LQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA*

Gene Symbol:MTHFS
Accession:NR_037654
Location:EXON;NON-CODING

Gene Symbol:ST20-MTHFS
Accession:NM_001199760
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001358519 CLINVAR
dbSNP (RS) rs2141385090 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTHFS CLINVAR
  ST20-MTHFS CLINVAR
OMIM 604197 CLINVAR