RGD:13528976 Rat Genome Database

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Variant: RGD:13528976 -  Homo sapiens

RGD ID: 13528976
RS ID: rs782354980
ClinVar ID: CV507940
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCFC1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,216,785
GRCh38 X 153,951,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.153216785A>T
NG_012513.1:g.25035T>A
NC_000023.11:g.153951334A>T
NM_005334.3:c.5517+16T>A
More... 		02/07/2017 intron variant likely benign AllHighlyPenetrant; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCFC1
Accession:XM_047442055
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442052
Location:INTRON

Gene Symbol:HCFC1
Accession:NM_005334
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442061
Location:INTRON

Gene Symbol:HCFC1
Accession:NM_001410705
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_006724816
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442057
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442056
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442053
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442060
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_011531148
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442058
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_011531147
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442059
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_017029471
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442054
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442051
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600176 CLINVAR
  RCV002062905 CLINVAR
dbSNP (RS) rs782354980 CLINVAR
MedGen C0796208 CLINVAR
  CN169374 CLINVAR
NCBI Gene HCFC1 CLINVAR
OMIM 300019 CLINVAR
  309541 CLINVAR