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Variant : CV363105 (NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala)) Homo sapiens

Symbol: CV363105
Name: NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala)
Condition: Cutaneous melanoma [RCV000420898]|Malignant melanoma [RCV000420898]
Clinical Significance: likely pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NP_001317658.1:p.Val15Ala
NP_001091679.1:p.Val22Ala
NP_001091680.1:p.Val22Ala
NM_001904.4:c.65T>C
NG_013302.2:g.30127T>C
NC_000003.12:g.41224577T>C
NC_000003.11:g.41266068T>C
NP_001895.1:p.Val22Ala
NM_001330729.2:c.44T>C
NM_001098209.2:c.65T>C
NM_001098210.2:c.65T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,577 - 41,224,577CLINVAR
GRCh37341,266,068 - 41,266,068CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834984
Created: 2017-04-11
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.