RGD:15177712 Rat Genome Database

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Variant: RGD:15177712 -  Homo sapiens

RGD ID: 15177712
RS ID: rs140355437
ClinVar ID: CV734701
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STATH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 70,864,165
GRCh38 4 69,998,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001009181.2:c.11T>C
NM_003154.3:c.11T>C
NC_000004.12:g.69998448T>C
NC_000004.11:g.70864165T>C
More... 		04/16/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:STATH
Accession:NM_001009181
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFPVFAFILALMVSMIGADSSEEYGYGPYQPVPEQPLYPQPYQPQYQQYTF*

Gene Symbol:STATH
Accession:NM_003154
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFPVFAFILALMVSMIGADSSEEKFLRRIGRFGYGYGPYQPVPEQPLYPQPYQPQYQQYTF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906714 CLINVAR
dbSNP (RS) rs140355437 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene STATH CLINVAR
OMIM 184470 CLINVAR