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Variant : CV512630 (NM_198270.4(NHS):c.3182del (p.Pro1061fs)) Homo sapiens

Symbol: CV512630
Name: NM_198270.4(NHS):c.3182del (p.Pro1061fs)
Condition: Inborn genetic diseases [RCV000623283]
Clinical Significance: pathogenic
Last Evaluated: 07/18/2016
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): NM_198270.2:c.3182delC
NM_001291868.2:c.2651del
NM_001136024.4:c.2714del
NG_011553.2:g.356932del
NC_000023.11:g.17727351del
NC_000023.10:g.17745471del
NP_938011.1:p.Pro1061fs
NP_001278796.1:p.Pro1082fs
NP_001278797.1:p.Pro884fs
NP_001129496.1:p.Pro905fs
NM_198270.4:c.3182del
NM_001291867.2:c.3245del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,351 - 17,727,351CLINVAR
GRCh37X17,745,471 - 17,745,471CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531376
Created: 2018-05-08
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.