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Variant : CV241153 (NM_005343.4(HRAS):c.546G>A (p.Met182Ile)) Homo sapiens

Symbol: CV241153
Name: NM_005343.4(HRAS):c.546G>A (p.Met182Ile)
Condition: Costello syndrome [RCV000229010]
Clinical Significance: uncertain significance
Last Evaluated: 12/02/2018
Review Status: criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_007666.1:g.7891G>A
NC_000011.10:g.532660C>T
NC_000011.9:g.532660C>T
NM_005343.2:c.546G>A
NP_005334.1:p.Met182Ile
NM_176795.4:c.*115G>A
NM_001130442.2:c.546G>A
NM_005343.4:c.546G>A
NM_001318054.2:c.309G>A
NP_001304983.1:p.Met103Ile
NP_001123914.1:p.Met182Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh3811532,660 - 532,660CLINVAR
GRCh3711532,660 - 532,660CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349040
Created: 2016-07-12
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.