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Variant : CV511485 (NM_001904.4(CTNNB1):c.1683G>C (p.Val561=)) Homo sapiens

Symbol: CV511485
Name: NM_001904.4(CTNNB1):c.1683G>C (p.Val561=)
Condition: Inborn genetic diseases [RCV000624771]
Clinical Significance: pathogenic
Last Evaluated: 02/19/2016
Review Status: criteria provided, single submitter
Related Genes: CTNNB1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_013302.2:g.39847G>C
NC_000003.11:g.41275788G>C
NC_000003.12:g.41234297G>C
NP_001895.1:p.Val561=
NM_001330729.2:c.1662G>C
NM_001098209.2:c.1683G>C
NM_001098210.2:c.1683G>C
NM_001904.4:c.1683G>C
NM_001904.3:c.1683G>C
NP_001317658.1:p.Val554=
NP_001091679.1:p.Val561=
NP_001091680.1:p.Val561=
Position
Human AssemblyChrPosition (strand)Source
GRCh38341,234,297 - 41,234,297CLINVAR
GRCh37341,275,788 - 41,275,788CLINVAR
Cytogenetic Map33p22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13533004
Created: 2018-05-08
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.