RGD:11622178 Rat Genome Database

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Variant: RGD:11622178 -  Homo sapiens

RGD ID: 11622178
RS ID: rs147591659
ClinVar ID: CV342115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXL8  HSF4  LOC127884274  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 67,197,688
GRCh38 16 67,163,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001538.3:c.-565G>A
NG_009294.1:g.5401G>A
NC_000016.10:g.67163785G>A
NC_000016.9:g.67197688G>A
More... 		01/12/2018 5 prime utr variant benign|uncertain significance CATARACT 5, LAMELLAR; CATARACT, MARNER TYPE; Lamellar cataract; Perinuclear cataract
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HSF4
Accession:NM_001538
Location:5UTRS;EXON

Gene Symbol:HSF4
Accession:NM_001040667
Location:5UTRS;EXON

Gene Symbol:FBXL8
Accession:NM_018378
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPGEGLPEEVLALIFRHLSLRDRAAAARVCRAWAAAATCSAVWHDTKISCECELEGMLPPYLSACLDHIHNLRLEFEP
SRKPSRRAAIELLMVLAGRAPGLRGLRLECRGEKPLFDAGRDVLEAVHAVCGAASQLRHLDLRRLSFTLDDALVLQAARS
CPELHSLFLDNSTLVGSVGPGSVLELLEACPRLRALGLHLASLSHAILEALAAPDRAPFALLALRCACPEDARASPLPNE
AWVALRRRHPGLAVELELEPALPAESVTRVLQPAVPVAALRLNLSGDTVGPVRFAAHHYAATLCALEVRAAASAELNAAL
EELAARCAALREVHCFCVVSHSVLDAFRAHCPRLRTYTLKLTRKPHPWRPTLVA*

Gene Symbol:HSF4
Accession:NM_001374674
Location:INTRON

Gene Symbol:HSF4
Accession:NM_001374675
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357401 CLINVAR
dbSNP (RS) rs147591659 CLINVAR
MedGen C0266537 CLINVAR
NCBI Gene FBXL8 CLINVAR
  HSF4 CLINVAR
OMIM 116800 CLINVAR
  602438 CLINVAR
  609077 CLINVAR