RGD:405058246 Rat Genome Database

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Variant: RGD:405058246 -  Homo sapiens

RGD ID: 405058246
ClinVar ID: CV2932578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCFC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,217,945
GRCh38 X 153,952,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005334.3:c.4942+20T>C
NM_001410705.1:c.5074+20T>C
NG_012513.1:g.23875T>C
NG_012513.2:g.24324T>C
More... 		10/13/2023 intron variant likely benign INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCFC1
Accession:NM_005334
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_006724816
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_011531148
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_011531147
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_017029471
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442060
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442059
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442058
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442057
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442056
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442054
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442055
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442053
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442052
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442051
Location:INTRON

Gene Symbol:HCFC1
Accession:XM_047442061
Location:INTRON

Gene Symbol:HCFC1
Accession:NM_001410705
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003522730 CLINVAR
MedGen C0796208 CLINVAR
NCBI Gene HCFC1 CLINVAR
OMIM 300019 CLINVAR
  309541 CLINVAR