RGD:38596837 Rat Genome Database

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Variant: RGD:38596837 -  Homo sapiens

RGD ID: 38596837
RS ID: rs191524414
ClinVar ID: CV963962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM47A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 34,148,689
GRCh38 X 34,130,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_203408.4:c.1707C>A
NM_203408.3:c.1707C>A
NG_021359.1:g.6759C>A
NC_000023.11:g.34130572G>T
More... 		06/14/2022 missense variant likely benign|uncertain significance Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Disease Annotations     Click to see Annotation Detail View

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: F to L (nonsynonymous)
Amino Acid Position: 569
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDQRLQDWLRSPGMDSKPWYCNKRPSKCFAKCKHRRLRFPPMDTQNWVFVKEGMDDFRYGCPSPEDTLVCRRDEFLLPK
ISLRGPQADPKSGQKKLLKKAALFSKLSPAQLARKAFVEQVEAQLMAKHPLAMYPNLGEDMPPDLLLQVLKHLDPERELE
DAWACCETQEKTTEVPTEPGKHPCGEFCLKPPETPVSHLLPEPPETGVSHLSPEPPKTPVSSLRPEPPETGVSHLRPEPP
ETGVSHIRPGPPITRRRSSLLRQLLKLDSERKLEDARAPCEGREKTTDEPTEPGKYPCGKFCPRPFETPLSHLRQEPPKT
PVSSLRPEPPETGESHLRLEHSKTRRGSSLRSEPSETGVSRLRLAPPKTRRGSSLHAEPSKTGVSHLSPEPPKTEVSHLH
PVPPKTGVCHLRLEPPDTSQVSNLLLYILKVLDSGRTLKDVWDRCEARVKKTKEPTEPHKSPCGEPCLQPPETQVSHPHP
EHPKTRRRSSLHSQPPKTRRTSSLRSEPPKTRRTSSLRSEPPKTRRTSSLGPEPPKTRRVSSLRPELPKSRRVSSLHPEP
PKAPESHQLSEPPKIRASYIKELLQEDTPSTKECVSDSLQYRYTSEKLREFFKWAGDLGADEESIRNLFDFTPKYRATHE
DQKFKKVKECSSELKYSMELDEKDEDKFFSQEKYWGRKFHTPSNSYTAQRVKMKYGAWYLKPKLWKKLRSDEPLIDPKLL
LKKPDEPDVLDDLYGPIAFKDFILSKGYEMPGIIQRLFARRGWTYDSVKTPIQRAMIFYKYKEIVEASEED*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001252482 CLINVAR
  RCV002570512 CLINVAR
dbSNP (RS) rs191524414 CLINVAR
MedGen C0950123 CLINVAR
  C3714756 CLINVAR
NCBI Gene FAM47A CLINVAR
SNOMED CT 228156007 CLINVAR