RGD:14726824 Rat Genome Database

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Variant: RGD:14726824 -  Homo sapiens

RGD ID: 14726824
RS ID: rs1596219234
ClinVar ID: CV643999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,093,571
GRCh38 16 2,043,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.682A>G
NM_001318194.2:c.352A>G
NM_001318193.2:c.511A>G
NM_002528.7:c.682A>G
More... 		12/13/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:NM_001318194
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARTVRKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQ
HYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGVAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEI
NGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:XM_047434171
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGF
WRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGVAVDTHVHRIANRLRWTKKATKSPEE
TRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_002528
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGVAVDTHVHRIANR
LRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318193
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
MAVAWGTVSGVAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQAL
CPAAQGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815803 CLINVAR
dbSNP (RS) rs1596219234 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR