RGD:401914157 Rat Genome Database

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Variant: RGD:401914157 -  Homo sapiens

RGD ID: 401914157
ClinVar ID: CV2811163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664002  PIGS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 26,897,925
GRCh38 17 28,570,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033198.4:c.231C>T
NG_161008.2:g.140G>A
NC_000017.11:g.28570907G>A
NC_000017.10:g.26897925G>A
More... 		08/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PIGS
Accession:NM_033198
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRASLPYSQISGLNALQLRLMVPVTVVFTRESVPLDDQE
KLPFTVVHEREIPLKYKMKIKCRFQKAYRRALDHEEEALSSGSVQEAEAMLDEPQEQAEGSLTVYVISEHSSLLPQDMMS
YIGPKRTAVVRGIMHREAFNIIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKRRPLKSSLGYEITFSLLNPDPKS
HDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILYYAMLGVNPRFDSASSSYYLDMHSLPHVINPVESRLGSSAASLYP
VLNFLLYVPELAHSPLYIQDKDGAPVATNAFHSPRWGGIMVYNVDSKTYNASVLPVRVEVDMVRVMEVFLAQLRLLFGIA
QPQLPPKCLLSGPTSEGLMTWELDRLLWARSVENLATATTTLTSLAQLLGKISNIVIKDDVASEVYKAVAAVQKSAEELA
SGHLASAFVASQEAVTSSELAFFDPSLLHLLYFPDDQKFAIYIPLFLPMAVPILLSLVKIFLETRKSWRKPEKTD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003428195 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIGS CLINVAR
OMIM 610271 CLINVAR