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Variant : CV380898 (GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1) Homo sapiens

Symbol: CV380898
Name: GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1
Condition: See cases [RCV000446941]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADCY1   AEBP1   BLVRA   C7orf25   CAMK2B   CCM2   COA1   DBNL   DDX56   GCK   GLI3   H2AZ2   HECW1   HECW1-IT1   IGFBP1   IGFBP3   INHBA   MRPL32   MRPS24   MYL7   MYO1G   NACAD   NPC1L1   NUDCD3   OGDH   PGAM2   POLD2   POLM   PPIA   PSMA2   PURB   RAMP3   SNHG15   SNORA5C   SPDYE1   STK17A   SUGCT   TBRG4   TMED4   UBE2D4   URGCP   YKT6   ZMIZ2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37740,350,383 - 47,034,422CLINVAR
Cytogenetic Map77p14.1-12.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851661
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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