RGD:156341839 Rat Genome Database

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Variant: RGD:156341839 -  Homo sapiens

RGD ID: 156341839
ClinVar ID: CV2103325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNLIP  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 118,310,712
GRCh38 10 116,551,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000936.4:c.427G>T
NG_023311.2:g.10271G>T
NG_023311.1:g.10285G>T
NC_000010.11:g.116551200G>T
More... 		09/30/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PNLIP
Accession:NM_000936
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPLWTLSLLLGAVAGKEVCYERLGCFSDDSPWSGITERPLHILPWSPKDVNTRFLLYTNENPNNFQEVAADSSSISGSN
FKTNRKTRFIIHGFIDKGEENWLANVCKNLFKVESVNCICVDWKGGSRTGYTQASQNIRIVGSEVAYFVEFLQSAFGYSP
SNVHVIGHSLGAHAAGEAGRRTNGTIGRITGLDPAEPCFQGTPELVRLDPSDAKFVDVIHTDGAPIVPNLGFGMSQVVGH
LDFFPNGGVEMPGCKKNILSQIVDIDGIWEGTRDFAACNHLRSYKYYTDSIVNPDGFAGFPCASYNVFTANKCFPCPSGG
CPQMGHYADRYPGKTNDVGQKFYLDTGDASNFARWRYKVSVTLSGKKVTGHILVSLFGNKGNSKQYEIFKGTLKPDSTHS
NEFDSDVDVGDLQMVKFIWYNNVINPTLPRVGASKIIVETNVGKQFNFCSPETVREEVLLTLTPC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002900520 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNLIP CLINVAR
OMIM 246600 CLINVAR