RGD:8604423 Rat Genome Database

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Variant: RGD:8604423 -  Homo sapiens

RGD ID: 8604423
RS ID: rs397514634
ClinVar ID: CV48576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF1  LOC117125591  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 12,995,811
GRCh38 19 12,884,997
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013087.1:g.7207T>G
NC_000019.10:g.12884997A>C
NC_000019.9:g.12995811A>C
NP_006554.1:p.Leu326Arg
More... 		09/05/2013 missense|missense variant pathogenic DOMINANT LU (a-b-) PHENOTYPE

Variant Details
Variant Transcripts
Gene Symbol:KLF1
Accession:NM_006563
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLT
NFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPE
PKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLG
PGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRF
ARSDERTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL*
Variant Samples
Additional References at PubMed
PMID:23125034  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000033155 CLINVAR
dbSNP (RS) rs397514634 CLINVAR
MedGen C1292231 CLINVAR
NCBI Gene KLF1 CLINVAR
  LOC117125591 CLINVAR
OMIM 111150 CLINVAR
  600599 CLINVAR
OMIM Allele 600599.0007 CLINVAR