RGD:8566664 Rat Genome Database

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Variant: RGD:8566664 -  Homo sapiens

RGD ID: 8566664
RS ID: rs75002628
ClinVar ID: CV33277
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 74,277,724
GRCh38 4 73,412,007
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.12753G>C
NC_000004.12:g.73412007G>C
NC_000004.11:g.74277724G>C
NP_000468.1:p.Arg242Pro
More... 		09/09/2014 missense|missense variant pathogenic|affects EUTHYROID HYPERTHYROXINEMIA 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVAD
ESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLK
KYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
APLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVEND
EMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDE
FKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
LNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHK
PKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL*
Variant Samples
Additional References at PubMed
PMID:9329347  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019899 CLINVAR
dbSNP (RS) rs75002628 CLINVAR
MedGen C0342185 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR
  615999 CLINVAR
OMIM Allele 103600.0055 CLINVAR