rs104894228

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	7	Costello syndrome

Make rs104894228(T;T)

Reference

GRCh37 37.1/132

Chromosome

11

Position

534286

Gene	HRAS, LRRC56

is a	snp
is	mentioned by
dbSNP	rs104894228
dbSNP (classic)	rs104894228
ClinGen	rs104894228
ebi	rs104894228
HLI	rs104894228
Exac	rs104894228
Gnomad	rs104894228
Varsome	rs104894228
LitVar	rs104894228
Map	rs104894228
PheGenI	rs104894228
Biobank	rs104894228
1000 genomes	rs104894228
hgdp	rs104894228
ensembl	rs104894228
geneview	rs104894228
scholar	rs104894228
google	rs104894228
pharmgkb	rs104894228
gwascentral	rs104894228
openSNP	rs104894228
23andMe	rs104894228
SNPshot	rs104894228
SNPdbe	rs104894228
MSV3d	rs104894228
GWAS Ctlg	rs104894228

Max Magnitude

7

aka c.37G>T (p.Gly13Cys)

23andMe name: i5005664

OMIM	190020
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894228(A;A) rs104894228(C;C) rs104894228(T;T)
Alt	rs104894228(A;A) rs104894228(C;C) rs104894228(T;T)
Reference	Rs104894228(G;G)
Significance	Pathogenic
Disease	Costello syndrome Rasopathy not provided Multiple myeloma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of the thyroid gland Squamous cell carcinoma of lung Acute myeloid leukemia Chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Adenocarcinoma of stomach Neoplasm Squamous cell carcinoma of the skin Colorectal Neoplasms Uterine cervical neoplasms Hepatocellular carcinoma Nevus sebaceous Epidermal nevus syndrome Epidermal nevus NEVUS SPILUS SPITZ NEVUS
Variation	info
Gene	HRAS
CLNDBN	Costello syndrome Rasopathy not provided Multiple myeloma Adenocarcinoma of lung Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of the thyroid gland Squamous cell carcinoma of lung Acute myeloid leukemia Chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Adenocarcinoma of stomach Neoplasm Squamous cell carcinoma of the skin Colorectal Neoplasms Uterine cervical neoplasms Hepatocellular carcinoma Nevus sebaceous Epidermal nevus syndrome Epidermal nevus NEVUS SPILUS, SOMATIC SPITZ NEVUS, SOMATIC
Reversed	1
HGVS	NC_000011.9:g.534286C>A; NC_000011.9:g.534286C>G; NC_000011.9:g.534286C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013440.27, RCV000149831.2, RCV000207504.2, RCV000417661.1, RCV000420958.1, RCV000423190.1, RCV000424247.1, RCV000425964.1, RCV000426653.1, RCV000428812.1, RCV000431688.1, RCV000433893.1, RCV000434069.1, RCV000436007.1, RCV000436205.1, RCV000439052.1, RCV000439954.1, RCV000441514.1, RCV000444110.1, RCV000445225.1, RCV000445336.1, RCV000029212.8, RCV000029213.8, RCV000032852.8, RCV000173005.4, RCV000173006.4, RCV000418725.1, RCV000419344.1, RCV000420422.1, RCV000420481.1, RCV000422625.1, RCV000424371.1, RCV000427669.1, RCV000430065.1, RCV000430227.1, RCV000431824.1, RCV000432361.1, RCV000435072.1, RCV000437649.1, RCV000439525.1, RCV000439826.1, RCV000440902.1, RCV000443949.1, RCV000417857.1, RCV000422141.1, RCV000424171.1, RCV000427918.1, RCV000430043.1, RCV000430707.1, RCV000435549.1, RCV000440979.1,