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Variant : CV374263 (NM_001101362.2(KBTBD13):c.429T>C (p.Pro143=)) Homo sapiens

Symbol: CV374263
Name: NM_001101362.2(KBTBD13):c.429T>C (p.Pro143=)
Condition: not specified [RCV000424899]
Clinical Significance: likely benign
Last Evaluated: 07/26/2016
Review Status: criteria provided, single submitter
Related Genes: KBTBD13  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_682t1:c.429T>C
NM_001101362.2:c.429T>C
LRG_682:g.5429T>C
NG_021411.1:g.5429T>C
NC_000015.10:g.65077244T>C
NC_000015.9:g.65369582T>C
LRG_682p1:p.Pro143=
NP_001094832.1:p.Pro143=
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,077,244 - 65,077,244CLINVAR
GRCh371565,369,582 - 65,369,582CLINVAR
Cytogenetic Map1515q22.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12837285
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-08-06
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.