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Variant : CV537043 (NM_198270.4(NHS):c.397del (p.Ala133fs)) Homo sapiens

Symbol: CV537043
Name: NM_198270.4(NHS):c.397del (p.Ala133fs)
Condition: not provided [RCV000658317]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2018
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.17376154del
NC_000023.10:g.17394277del
NG_011553.2:g.5735del
NM_198270.2:c.397delG
NM_001291867.2:c.397del
NM_198270.4:c.397del
NP_001278796.1:p.Ala133fs
NP_938011.1:p.Ala133fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,154 - 17,376,154CLINVAR
GRCh37X17,394,277 - 17,394,277CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13705733
Created: 2018-08-07
Species: Homo sapiens
Last Modified: 2019-09-10
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.