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Variant : CV623669 (NM_033109.5(PNPT1):c.420del (p.Leu141fs)) Homo sapiens

Symbol: CV623669
Name: NM_033109.5(PNPT1):c.420del (p.Leu141fs)
Condition: Neurodevelopmental disorder [RCV000787359]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: PNPT1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_033012.1:g.15093del
NC_000002.12:g.55683818del
NC_000002.11:g.55910953del
NM_033109.5:c.420del
NP_149100.2:p.Leu141fs
NM_033109.5:c.420delG
Position
Human AssemblyChrPosition (strand)Source
GRCh38255,683,818 - 55,683,818CLINVAR
GRCh37255,910,953 - 55,910,953CLINVAR
Cytogenetic Map22p16.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698423
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-09-22
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.