RGD:10411776 Rat Genome Database

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Variant: RGD:10411776 -  Homo sapiens

RGD ID: 10411776
RS ID: rs373238471
ClinVar ID: CV205519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM47A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 34,149,086
GRCh38 X 34,130,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021359.1:g.6362C>T
NC_000023.11:g.34130969G>A
NC_000023.10:g.34149086G>A
NP_981953.2:p.Thr437Met
More...
10/31/2014 missense variant pathogenic|benign
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FAM47A
Accession:NM_203408
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDQRLQDWLRSPGMDSKPWYCNKRPSKCFAKCKHRRLRFPPMDTQNWVFVKEGMDDFRYGCPSPEDTLVCRRDEFLLPK
ISLRGPQADPKSGQKKLLKKAALFSKLSPAQLARKAFVEQVEAQLMAKHPLAMYPNLGEDMPPDLLLQVLKHLDPERELE
DAWACCETQEKTTEVPTEPGKHPCGEFCLKPPETPVSHLLPEPPETGVSHLSPEPPKTPVSSLRPEPPETGVSHLRPEPP
ETGVSHIRPGPPITRRRSSLLRQLLKLDSERKLEDARAPCEGREKTTDEPTEPGKYPCGKFCPRPFETPLSHLRQEPPKT
PVSSLRPEPPETGESHLRLEHSKTRRGSSLRSEPSETGVSRLRLAPPKTRRGSSLHAEPSKTGVSHLSPEPPKTEVSHLH
PVPPKTGVCHLRLEPPDTSQVSNLLLYILKVLDSGRMLKDVWDRCEARVKKTKEPTEPHKSPCGEPCLQPPETQVSHPHP
EHPKTRRRSSLHSQPPKTRRTSSLRSEPPKTRRTSSLRSEPPKTRRTSSLGPEPPKTRRVSSLRPELPKSRRVSSLHPEP
PKAPESHQFSEPPKIRASYIKELLQEDTPSTKECVSDSLQYRYTSEKLREFFKWAGDLGADEESIRNLFDFTPKYRATHE
DQKFKKVKECSSELKYSMELDEKDEDKFFSQEKYWGRKFHTPSNSYTAQRVKMKYGAWYLKPKLWKKLRSDEPLIDPKLL
LKKPDEPDVLDDLYGPIAFKDFILSKGYEMPGIIQRLFARRGWTYDSVKTPIQRAMIFYKYKEIVEASEED*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000201331 CLINVAR
dbSNP (RS) rs373238471 CLINVAR
MedGen C1837249 CLINVAR
NCBI Gene FAM47A CLINVAR