RGD:8566650 Rat Genome Database

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Variant: RGD:8566650 -  Homo sapiens

RGD ID: 8566650
RS ID: rs77449454
ClinVar ID: CV33263
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ALB  
Reference Nucleotide: A
Variant Nucleotide: AA
Position
Assembly Chr Position
GRCh37 4 74,279,165
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NP_000468.1:p.Asn291fs
NG_009291.1:g.14194dup
NC_000004.12:g.73413448dup
NP_000468.1:p.Asn291fs
More... 		09/09/2014 frameshift variant pathogenic infancy|neonatal <1 / 1 000 000 Analbuminemia, American Indian type; Analbuminemia, Vancouver
Disease Annotations     Click to see Annotation Detail View
Analbuminemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVAD
ESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLK
KYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
ARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICEKQDSISSKLKECCEKPLLEKSHCIAEVEND
EMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDE
FKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
LNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHK
PKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL*
Variant Samples
Additional References at PubMed
PMID:8134387  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019885 CLINVAR
dbSNP (RS) rs77449454 CLINVAR
MedGen C0878666 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR
  616000 CLINVAR
OMIM Allele 103600.0040 CLINVAR