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Variant : CV248091 (GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1) Homo sapiens

Symbol: CV248091
Name: GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1
Condition: See cases [RCV000240125]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADCYAP1R1   AQP1   AVL9   C7orf31   CBX3   CCDC126   CHN2   CPVL   CREB5   CRHR2   CYCS   EVX1   FAM126A   FAM221A   FKBP14   GARS1   GGCT   GHRHR   GPNMB   GSDME   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   IGF2BP3   INMT   ITPRID1   JAZF1   KLHL7   KLHL7-DT   LINC02860   LSM5   MALSU1   MINDY4   MIR148A   MIR196B   MPP6   MTURN   NEUROD6   NFE2L3   NOD1   NPVF   NPY   NUP42   OSBPL3   PDE1C   PLEKHA8   PPP1R17   PRR15   SCRN1   SKAP2   SNX10   STK31   TAX1BP1   TRA2A   TRIL   WIPF3   ZNRF2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37722,935,369 - 32,621,975CLINVAR
Cytogenetic Map77p15.3-14.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541575
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.