RGD:152154017 Rat Genome Database

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Variant: RGD:152154017 -  Homo sapiens

RGD ID: 152154017
RS ID: rs547974510
ClinVar ID: CV1592965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 288,408
GRCh38 7 248,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020223.4:c.1072+12C>T
NG_033970.1:g.58078C>T
NC_000007.14:g.248442C>T
NC_000007.13:g.288408C>T
12/12/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:INTRON

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

Gene Symbol:FAM20C
Accession:XR_001744837
Location:INTRON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_007060117
Location:INTRON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_007060116
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002202413 CLINVAR
dbSNP (RS) rs547974510 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR