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Variant : CV446599 (NM_198270.4(NHS):c.4370_4373delinsA (p.Ser1457_Ser1458delinsAsn)) Homo sapiens

Symbol: CV446599
Name: NM_198270.4(NHS):c.4370_4373delinsA (p.Ser1457_Ser1458delinsAsn)
Condition: not specified [RCV000520534]
Clinical Significance: uncertain significance
Last Evaluated: 08/03/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: indel (SO:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel
Evidence: clinical testing
HGVS Name(s): NP_938011.1:p.Ser1457_Ser1458delinsAsn
NM_198270.2:c.4370_4373delGCAGinsA
NM_001291868.2:c.3839_3842delinsA
NM_001136024.4:c.3902_3905delinsA
NM_198270.4:c.4370_4373delinsA
NM_001291867.2:c.4433_4436delinsA
NG_011553.2:g.361522_361525delinsA
NC_000023.11:g.17731941_17731944delinsA
NC_000023.10:g.17750061_17750064delinsA
NP_001278797.1:p.Ser1280_Ser1281delinsAsn
NP_001129496.1:p.Ser1301_Ser1302delinsAsn
NP_001278796.1:p.Ser1478_Ser1479delinsAsn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,731,941 - 17,731,944CLINVAR
GRCh37X17,750,061 - 17,750,064CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13477951
Created: 2018-01-09
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.