RGD:28897449 Rat Genome Database

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Variant: RGD:28897449 -  Homo sapiens

RGD ID: 28897449
RS ID: rs767162730
ClinVar ID: CV886778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HLCS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 38,124,594
GRCh38 21 36,752,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000411.8:c.*1953A>G
NG_016193.2:g.243102A>G
NR_148021.1:n.4816A>G
NM_001352515.2:c.*1953A>G
More...
01/13/2018 3 prime utr variant uncertain significance MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HLCS
Accession:NM_000411
Location:3UTRS;EXON

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

Gene Symbol:HLCS
Accession:NM_001242784
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_001352516
Location:3UTRS;EXON

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

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

Gene Symbol:HLCS
Accession:XM_024452065
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:NR_148020
Location:EXON;NON-CODING

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

Gene Symbol:HLCS
Accession:XM_011529540
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440753
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440756
Location:INTRON

Gene Symbol:HLCS
Accession:XM_047440755
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001141589 CLINVAR
dbSNP (RS) rs767162730 CLINVAR
MedGen C0268581 CLINVAR
NCBI Gene HLCS CLINVAR
OMIM 253270 CLINVAR
  609018 CLINVAR