RGD:28912253 Rat Genome Database

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Variant: RGD:28912253 -  Homo sapiens

RGD ID: 28912253
RS ID: rs2068797171
ClinVar ID: CV861072
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM50A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,678,066
GRCh38 X 154,449,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004699.4:c.763G>A
NG_013233.1:g.10582G>A
NC_000023.11:g.154449718G>A
NC_000023.10:g.153678066G>A
More... 		08/27/2020 missense variant pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAM50A
Accession:NM_004699
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAELKSSTVGLVTLNDMKAKQEAL
VKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSLSFTLEEEEEGGEEEEEAAMYEEEMEREEITTKKRKLGKNP
DVDTSFLPDRDREEEENRLREELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQFLQKALEILRKDFSE
LRSAGVEQLMYIKENLIIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDESHAGKVVLRSWYEKNKHIFP
ASRWEPYDPEKKWDKYTIR*
Variant Samples
Additional References at PubMed
PMID:32703943  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001093616 CLINVAR
  RCV001254886 CLINVAR
dbSNP (RS) rs2068797171 CLINVAR
MedGen C1846057 CLINVAR
  CN517202 CLINVAR
NCBI Gene FAM50A CLINVAR
OMIM 300261 CLINVAR
  300453 CLINVAR
OMIM Allele 300453.0005 CLINVAR