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Variant : CV514793 (NM_198270.4(NHS):c.975del (p.Thr326fs)) Homo sapiens

Symbol: CV514793
Name: NM_198270.4(NHS):c.975del (p.Thr326fs)
Condition: not provided [RCV000627515]
Clinical Significance: pathogenic
Last Evaluated: 03/21/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.17739683del
NG_011553.2:g.351144del
NM_198270.2:c.975delG
NC_000023.11:g.17721563del
NP_001278796.1:p.Thr347fs
NM_001291867.2:c.1038del
NM_001291868.2:c.444del
NM_001136024.4:c.507del
NM_198270.4:c.975del
NP_001278797.1:p.Thr149fs
NP_001129496.1:p.Thr170fs
NP_938011.1:p.Thr326fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,721,563 - 17,721,563CLINVAR
GRCh37X17,739,683 - 17,739,683CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13611485
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-09-06
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.