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Variant : CV170209 (NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)) Homo sapiens

Symbol: CV170209
Name: NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)
Condition: Epidermal nevus syndrome [RCV000148033]|Neoplasm [RCV000437086]|Neoplasm of the thyroid gland [RCV000418550]|Rasopathy [RCV000157918]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not specified [RCV000157918]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance|not provided
Last Evaluated: 10/12/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided|not classified by submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_007666.1:g.6677A>G
NC_000011.10:g.533874T>C
NC_000011.9:g.533874T>C
NP_005334.1:p.Gln61Arg
NM_176795.4:c.182A>G
NP_789765.1:p.Gln61Arg
NM_005343.2:c.182A>G
NP_001123914.1:p.Gln61Arg
NM_001318054.2:c.-138A>G
NM_001130442.2:c.182A>G
NM_005343.4:c.182A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh3811533,874 - 533,874CLINVAR
GRCh3711533,874 - 533,874CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Trait Synonyms: Cancer; Neoplasia; Neoplasia of the thyroid gland; Nevus, Sebaceous of Jadassohn; Oncological abnormality; Oncology; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; Sebaceous nevus syndrome and hemimegalencephaly; Tumor; Tumour
Age Of Onset: childhood
Prevalence: 1-5 / 10 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9684519
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.