RGD:151820636 Rat Genome Database

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Variant: RGD:151820636 -  Homo sapiens

RGD ID: 151820636
RS ID: rs754650368
ClinVar ID: CV1398253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 64,915,041
GRCh38 14 64,448,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1243t1:c.2279+6T>C
NM_001364837.1:c.2279+6T>C
NM_005956.4:c.2279+6T>C
LRG_1243:g.65283T>C
More...
11/09/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MTHFD1
Accession:NM_005956
Location:INTRON

Gene Symbol:MTHFD1
Accession:NM_001364837
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002013341 CLINVAR
dbSNP (RS) rs754650368 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTHFD1 CLINVAR
OMIM 172460 CLINVAR