chr11:534287:GC>TT Detail (hg19) (HRAS, LRRC56)

Information

Genome

Assembly Position
hg19 chr11:534,287-534,288
hg38 chr11:534,287-534,288 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001130442.2:c.35_36delinsAA NP_001123914.1:p.Gly12Glu
NM_005343.3:c.35_36delinsAA NP_005334.1:p.Gly12Glu
NM_176795.4:c.35_36delinsAA NP_789765.1:p.Gly12Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190020 OMIM
HGNC 5173 HGNC
Ensembl ENSG00000174775 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
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2013-08-22 criteria provided, single submitter Costello syndrome germline Detail
Pathogenic 2017-05-31 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) AND Costello syndrome ClinVar Detail
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) AND not provided ClinVar 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
rs727503094 dbSNP
Genome
hg19
Position
chr11:534,287-534,288
Variant Type
snv
Reference Allele
GC
Alternative Allele
TT
Genome browser