RGD:150506975 Rat Genome Database

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Variant: RGD:150506975 -  Homo sapiens

RGD ID: 150506975
RS ID: rs8177796
ClinVar ID: CV1226477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 116,155,428
GRCh38 9 113,393,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000031.6:c.113+299C>T
NM_001317745.2:c.140+299C>T
NM_001003945.3:c.34+299C>T
NG_008716.1:g.13191C>T
More... 		06/18/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALAD
Accession:XM_047422947
Location:5UTRS;INTRON

Gene Symbol:ALAD
Accession:NM_001003945
Location:INTRON

Gene Symbol:ALAD
Accession:XM_047422945
Location:INTRON

Gene Symbol:ALAD
Accession:XM_011518364
Location:INTRON

Gene Symbol:ALAD
Accession:NM_001317745
Location:INTRON

Gene Symbol:ALAD
Accession:XM_047422946
Location:INTRON

Gene Symbol:ALAD
Accession:XM_047422944
Location:INTRON

Gene Symbol:ALAD
Accession:NM_000031
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001635845 CLINVAR
dbSNP (RS) rs8177796 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALAD CLINVAR
OMIM 125270 CLINVAR