chr11:533875:G>T Detail (hg38) (HRAS, LRRC56)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:533,875-533,875 View the variant detail on this assembly version.
hg38	chr11:533,875-533,875

HGVS

HRAS

Type	Transcript	Protein
RefSeq	NM_001318054.1:c.181C>A	NP_001304983.1:p.Gln61Lys
	NM_176795.4:c.181C>A	NP_789765.1:p.Gln61Lys
	NM_001130442.2:c.181C>A	NP_001123914.1:p.Gln61Lys
	NM_005343.3:c.181C>A	NP_005334.1:p.Gln61Lys
Ensemble	ENST00000311189.8:c.181C>A	ENST00000311189.8:p.Gln61Lys
	ENST00000397594.7:c.181C>A	ENST00000397594.7:p.Gln61Lys
	ENST00000397596.6:c.181C>A	ENST00000397596.6:p.Gln61Lys
	ENST00000417302.7:c.181C>A	ENST00000417302.7:p.Gln61Lys
	ENST00000451590.5:c.181C>A	ENST00000451590.5:p.Gln61Lys

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	7
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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Links

HRAS

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	COSM123649	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		salivary gland neoplasms	somatic	MGS000044 (TMGS000097)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2009-11-01	no assertion criteria provided	Thyroid cancer, nonmedullary, 2	somatic	Detail
Pathogenic	2009-11-01	no assertion criteria provided	Spermatocytic seminoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2017-08-28	criteria provided, single submitter	Noonan syndrome 3	germline	Detail
Pathogenic	2018-08-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-04-30	no assertion criteria provided	Lip and oral cavity carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Microfollicular adenoma	Two ras mutations at codon 61 (Gln----Lys in N-ras and Gln----Arg in Ha-ras) wer...	BeFree	2021946	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND Thyroid cancer, nonmedullary, 2	ClinVar	Detail
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND Spermatocytic seminoma	ClinVar	Detail
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND Breast neoplasm	ClinVar	Detail
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND Noonan syndrome 3	ClinVar	Detail
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND not provided	ClinVar	Detail
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) AND Lip and oral cavity carcinoma	ClinVar	Detail
Two ras mutations at codon 61 (Gln----Lys in N-ras and Gln----Arg in Ha-ras) were found in a microfo...	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: rs28933406 dbSNP
Genome: hg38
Position: chr11:533,875-533,875
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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