chr11:2466539:GCCGCGCCC> Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,466,539-2,466,547
hg38 chr11:2,445,309-2,445,317 

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.211_219delGCCGCGCCC NP_000209.2:p.Ala71_Pro73del
Ensemble ENST00000155840.12:c.211_219delGCCGCGCCC ENST00000155840.12:p.Ala71_Pro73del
ENST00000496887.7:c.24-74_24-66delGCCGCGCCC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607542 OMIM
HGNC 6294 HGNC
Ensembl ENSG00000053918 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776555 dbSNP
Genome
hg19
Position
chr11:2,466,539-2,466,547
Variant Type
snv
Reference Allele
GCCGCGCCC
Alternative Allele
-
Genome browser