Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV363102 (NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr)) Homo sapiens

Symbol: CV363102
Name: NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr)
Condition: Cutaneous melanoma [RCV000419765]|Malignant melanoma [RCV000419765]
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): NM_001330729.2:c.16G>A
NM_001098209.2:c.37G>A
NM_001098210.2:c.37G>A
NG_013302.2:g.30099G>A
NC_000003.12:g.41224549G>A
NC_000003.11:g.41266040G>A
NP_001895.1:p.Ala13Thr
NM_001904.4:c.37G>A
NP_001091679.1:p.Ala13Thr
NP_001091680.1:p.Ala13Thr
NP_001317658.1:p.Ala6Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,549 - 41,224,549CLINVAR
GRCh37341,266,040 - 41,266,040CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834512
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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