RGD:152042804 Rat Genome Database

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Variant: RGD:152042804 -  Homo sapiens

RGD ID: 152042804
RS ID: rs1569206652
ClinVar ID: CV1637586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HLCS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 38,302,543
GRCh38 21 36,930,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242785.2:c.1179+8G>A
NM_001352515.2:c.1179+8G>A
NM_001352516.2:c.1179+8G>A
NM_001352517.1:c.1179+8G>A
More... 		12/04/2020 intron variant likely benign MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HLCS
Accession:NM_001242784
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001352518
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440756
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440755
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001352514
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440752
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001352516
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440753
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001242785
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001352515
Location:INTRON

Gene Symbol:HLCS
Accession:NM_000411
Location:INTRON

Gene Symbol:HLCS
Accession:XM_011529540
Location:INTRON

Gene Symbol:HLCS
Accession:NM_001352517
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440754
Location:INTRON

Gene Symbol:HLCS
Accession:XM_024452065
Location:INTRON

Gene Symbol:HLCS
Accession:NR_148021
Location:INTRON;NON-CODING

Gene Symbol:HLCS
Accession:NR_148020
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002144723 CLINVAR
dbSNP (RS) rs1569206652 CLINVAR
MedGen C0268581 CLINVAR
NCBI Gene HLCS CLINVAR
OMIM 253270 CLINVAR
  609018 CLINVAR