RGD:15121693 Rat Genome Database

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Variant: RGD:15121693 -  Homo sapiens

RGD ID: 15121693
RS ID: rs144695155
ClinVar ID: CV772418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,995,729
GRCh38 19 12,884,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006563.5:c.1059C>T
NG_013087.1:g.7289C>T
NC_000019.10:g.12884915G>A
NC_000019.9:g.12995729G>A
More... 		08/14/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KLF1
Accession:NM_006563
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLT
NFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPE
PKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLG
PGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRF
ARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000940567 CLINVAR
dbSNP (RS) rs144695155 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KLF1 CLINVAR
OMIM 600599 CLINVAR