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Variant : CV505119 (NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=)) Homo sapiens

Symbol: CV505119
Name: NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=)
Condition: Nemaline myopathy 6 [RCV000639960]|not specified [RCV000606954]
Clinical Significance: benign|likely benign
Last Evaluated: 01/02/2018
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_682:g.5171T>C
NG_021411.1:g.5171T>C
NC_000015.10:g.65076986T>C
NC_000015.9:g.65369324T>C
NP_001094832.1:p.Gly57=
LRG_682t1:c.171T>C
NM_001101362.2:c.171T>C
LRG_682p1:p.Gly57=
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,076,986 - 65,076,986CLINVAR
GRCh371565,369,324 - 65,369,324CLINVAR
Cytogenetic Map1515q22.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13532945
Created: 2018-05-08
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.