RGD:14728225 Rat Genome Database

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Variant: RGD:14728225 -  Homo sapiens

RGD ID: 14728225
RS ID: rs369032190
ClinVar ID: CV643976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 2,090,034
GRCh38 16 2,040,033
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.806A>T
NM_001318194.2:c.476A>T
NM_001318193.2:c.635A>T
NM_002528.7:c.806A>T
More... 		09/04/2018 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; NTHL1-Related Adenomatous Polyposis and Colorectal Cancer; NTHL1-related attenuated familial adenomatous polyposis; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:XM_047434171
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGF
WRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEE
TRAALEEWLPRELWHVINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_002528
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANR
LRWTKKATKSPEETRAALEEWLPRELWHVINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318194
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARTVRKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQ
HYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHVI
NGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318193
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
MAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHVINGLLVGFGQQTCLPVHPRCHACLNQAL
CPAAQGL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816420 CLINVAR
  RCV002427016 CLINVAR
  RCV003467477 CLINVAR
dbSNP (RS) rs369032190 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4225157 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR
  616415 CLINVAR
SNOMED CT 699346009 CLINVAR