RGD:405190847 Rat Genome Database

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Variant: RGD:405190847 -  Homo sapiens

RGD ID: 405190847
ClinVar ID: CV3118048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCFC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,229,649
GRCh38 X 153,964,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410705.1:c.429C>T
NM_005334.3:c.429C>T
NG_012513.1:g.12171C>T
NG_012513.2:g.12620C>T
More... 		07/24/2023 synonymous variant benign INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003820958 CLINVAR
MedGen C0796208 CLINVAR
NCBI Gene HCFC1 CLINVAR
OMIM 300019 CLINVAR
  309541 CLINVAR