RGD:14720929 Rat Genome Database

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Variant: RGD:14720929 -  Homo sapiens

RGD ID: 14720929
RS ID: rs753200685
ClinVar ID: CV644103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,097,763
GRCh38 16 2,047,762
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.62C>A
NM_001318194.2:c.-117C>A
NM_001318193.2:c.62C>A
NM_002528.7:c.62C>A
More... 		07/29/2018 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:NM_001318194
Location:5UTRS;EXON

Gene Symbol:NTHL1
Accession:XM_047434171
Location:5UTRS;EXON

Gene Symbol:NTHL1
Accession:NM_002528
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGQRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANR
LRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318193
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGQRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
MAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQAL
CPAAQGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813233 CLINVAR
dbSNP (RS) rs753200685 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR