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Variant : CV363103 (NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr)) Homo sapiens

Symbol: CV363103
Name: NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr)
Condition: Cutaneous melanoma [RCV000430055]|Malignant melanoma [RCV000430055]
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): NG_013302.2:g.30123G>A
NC_000003.12:g.41224573G>A
NC_000003.11:g.41266064G>A
NP_001895.1:p.Ala21Thr
NM_001330729.2:c.40G>A
NM_001098209.2:c.61G>A
NM_001098210.2:c.61G>A
NM_001904.4:c.61G>A
NP_001317658.1:p.Ala14Thr
NP_001091679.1:p.Ala21Thr
NP_001091680.1:p.Ala21Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,573 - 41,224,573CLINVAR
GRCh37341,266,064 - 41,266,064CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12840098
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.