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Variant : CV528961 (NM_001101362.2(KBTBD13):c.146G>T (p.Arg49Leu)) Homo sapiens

Symbol: CV528961
Name: NM_001101362.2(KBTBD13):c.146G>T (p.Arg49Leu)
Condition: Nemaline myopathy 6 [RCV000639954]
Clinical Significance: uncertain significance
Last Evaluated: 01/05/2018
Review Status: criteria provided, single submitter
Related Genes: KBTBD13  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_682:g.5146G>T
NC_000015.9:g.65369299G>T
NG_021411.1:g.5146G>T
LRG_682p1:p.Arg49Leu
NC_000015.10:g.65076961G>T
LRG_682t1:c.146G>T
NM_001101362.2:c.146G>T
NP_001094832.1:p.Arg49Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,076,961 - 65,076,961CLINVAR
GRCh371565,369,299 - 65,369,299CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13608087
Created: 2018-06-12
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.