RGD:21072451 Rat Genome Database

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Variant: RGD:21072451 -  Homo sapiens

RGD ID: 21072451
RS ID: rs545982257
ClinVar ID: CV791190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASCL1  LOC127824863  PAH  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 103,352,143
GRCh38 12 102,958,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354304.2:c.-266C>A
NM_004316.4:c.121G>T
NG_008690.2:g.5046C>A
NG_008950.1:g.5692G>T
More... 		04/21/2022 5 prime utr variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:NM_001354304
Location:5UTRS;EXON

Gene Symbol:ASCL1
Accession:NM_004316
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAASAAAAAAQSAQQQQQQQQQQQQAPQLRPAADGQPSGGGHK
SAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETL
RSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF*

Gene Symbol:PAH
Accession:NM_000277
Location:INTRON

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002225775 CLINVAR
  RCV003492194 CLINVAR
dbSNP (RS) rs545982257 CLINVAR
MedGen C1333600 CLINVAR
  C3661900 CLINVAR
NCBI Gene ASCL1 CLINVAR
  PAH CLINVAR
OMIM 100790 CLINVAR
  612349 CLINVAR