RGD:9589271 Rat Genome Database

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Variant: RGD:9589271 -  Homo sapiens

RGD ID: 9589271
RS ID: rs78575701
ClinVar ID: CV166090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 74,283,258
GRCh38 4 73,417,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009291.1:g.18287C>T
NC_000004.12:g.73417541C>T
NC_000004.11:g.74283258C>T
NM_000477.3:c.1300C>T
More... 		missense variant not provided

Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVAD
ESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLK
KYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
ARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVEND
EMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDE
FKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVCYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
LNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHK
PKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL*
Variant Samples
Additional References at PubMed
PMID:8593973   PMID:9492301   PMID:17135341  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144394 CLINVAR
dbSNP (RS) rs78575701 CLINVAR
MedGen CN220290 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR