RGD:11631574 Rat Genome Database

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Variant: RGD:11631574 -  Homo sapiens

RGD ID: 11631574
RS ID: rs116526486
ClinVar ID: CV351734
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HLCS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 38,126,000
GRCh38 21 36,753,699
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001352514.2:c.*547C>T
NM_000411.6:c.*547C>T
NM_001352516.2:c.*547C>T
NC_000021.9:g.36753699G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign infancy 1-9 / 1 000 000 MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HLCS
Accession:NM_001352516
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001352515
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001352517
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001242784
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001242785
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001352518
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:XM_047440752
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:XM_047440754
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_000411
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:NM_001352514
Location:3UTRS;EXON

Gene Symbol:HLCS
Accession:XM_024452065
Location:3UTRS;EXON

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

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

Gene Symbol:HLCS
Accession:XM_047440756
Location:INTRON

Gene Symbol:HLCS
Accession:XM_011529540
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440755
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440753
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000381225 CLINVAR
dbSNP (RS) rs116526486 CLINVAR
MedGen C0268581 CLINVAR
NCBI Gene HLCS CLINVAR
OMIM 253270 CLINVAR
  609018 CLINVAR