RGD:14721052 Rat Genome Database

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Variant: RGD:14721052 -  Homo sapiens

RGD ID: 14721052
RS ID: rs1596220242
ClinVar ID: CV652702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,094,630
GRCh38 16 2,044,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.525+1G>A
NM_001318194.2:c.195+1G>A
NM_001318193.2:c.355-903G>A
NM_002528.7:c.525+1G>A
More... 		12/16/2018 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:XM_047434171
Location:INTRON

Gene Symbol:NTHL1
Accession:NM_002528
Location:INTRON

Gene Symbol:NTHL1
Accession:NM_001318193
Location:INTRON

Gene Symbol:NTHL1
Accession:NM_001318194
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25938944   PMID:26559593   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813282 CLINVAR
dbSNP (RS) rs1596220242 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR