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Variant : CV537044 (NM_198270.4(NHS):c.1190del (p.Ser397fs)) Homo sapiens

Symbol: CV537044
Name: NM_198270.4(NHS):c.1190del (p.Ser397fs)
Condition: not provided [RCV000658316]
Clinical Significance: pathogenic
Last Evaluated: 06/04/2018
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): NP_938011.1:p.Ser397fs
NC_000023.11:g.17725359del
NG_011553.2:g.354940del
NM_198270.2:c.1190delC
NC_000023.10:g.17743479del
NM_001291868.2:c.659del
NP_001278797.1:p.Ser220fs
NP_001278796.1:p.Ser418fs
NM_198270.4:c.1190del
NM_001291867.2:c.1253del
NM_001136024.4:c.722del
NP_001129496.1:p.Ser241fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,725,359 - 17,725,359CLINVAR
GRCh37X17,743,479 - 17,743,479CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13705732
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.