Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV590365 (NC_000007.13:g.23236782_30690453del7453672) Homo sapiens

Symbol: CV590365
Name: NC_000007.13:g.23236782_30690453del7453672
Condition: Silver Russell Syndrome-related disorder [RCV000785664]
Clinical Significance: pathogenic
Last Evaluated: 12/06/2018
Review Status: criteria provided, single submitter
Related Genes: C7orf31   CBX3   CCDC126   CHN2   CPVL   CREB5   CYCS   EVX1   FAM221A   FKBP14   GARS1   GGCT   GPNMB   GSDME   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   IGF2BP3   JAZF1   LINC02860   MALSU1   MIR148A   MIR196B   MPP6   MTURN   NFE2L3   NOD1   NPVF   NPY   NUP42   OSBPL3   PLEKHA8   PRR15   SCRN1   SKAP2   SNX10   STK31   TAX1BP1   TRA2A   TRIL   WIPF3   ZNRF2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): NC_000007.13:g.23236782_30690453del7453672
Position
Human AssemblyChrPosition (strand)Source
GRCh37723,236,782 - 30,690,453CLINVAR
Cytogenetic Map77p15.3-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14696119
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.