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Variant : CV363104 (NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del)) Homo sapiens

Symbol: CV363104
Name: NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del)
Condition: Cutaneous melanoma [RCV000440292]|Malignant melanoma [RCV000440292]
Clinical Significance: likely pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: CTNNB1  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: literature only
HGVS Name(s): NM_001098209.2:c.65_115del
NM_001098210.2:c.65_115del
NM_001904.4:c.65_115del
NG_013302.2:g.30127_30177del
NC_000003.11:g.41266068_41266118del
NP_001317658.1:p.Val15_Gly31del
NP_001091679.1:p.Val22_Gly38del
NM_001330729.2:c.44_94del
NP_001091680.1:p.Val22_Gly38del
NP_001895.1:p.Val22_Gly38del
NC_000003.12:g.41224577_41224627del
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,224,577 - 41,224,627CLINVAR
GRCh37341,266,067 - 41,266,117CLINVAR
Cytogenetic Map33p22.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12845700
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.