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Variant : CV465303 (NM_001101362.2(KBTBD13):c.815T>A (p.Ile272Asn)) Homo sapiens

Symbol: CV465303
Name: NM_001101362.2(KBTBD13):c.815T>A (p.Ile272Asn)
Condition: Nemaline myopathy 6 [RCV000550704]
Clinical Significance: uncertain significance
Last Evaluated: 11/08/2016
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_682t1:c.815T>A
NM_001101362.2:c.815T>A
NG_021411.1:g.5815T>A
NC_000015.10:g.65077630T>A
NC_000015.9:g.65369968T>A
LRG_682p1:p.Ile272Asn
NP_001094832.1:p.Ile272Asn
LRG_682:g.5815T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381565,077,630 - 65,077,630CLINVAR
GRCh371565,369,968 - 65,369,968CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13479846
Created: 2018-01-09
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.