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Variant : CV163943 (GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1) Homo sapiens

Symbol: CV163943
Name: GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1
Condition: See cases [RCV000142297]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC072061.1   AEBP1   AMPH   BLVRA   C7orf25   CAMK2B   CCM2   CDK13   COA1   DBNL   DDX56   GCK   GLI3   H2AZ2   HECW1   HECW1-IT1   INHBA   INHBA-AS1   LINC00265   LINC00957   LINC01448   LINC01449   LINC01450   LINC01952   LOC108192210   LOC110120590   LOC110121030   LOC110121152   LOC111591501   LOC113748390   LOC113748393   LOC114004408   LOC116183089   LUARIS   MIR3943   MIR4649   MIR4657   MIR6837   MIR6838   MPLKIP   MRPL32   MRPS24   MYL7   MYO1G   NACAD   NPC1L1   NUDCD3   OGDH   PGAM2   POLD2   POLM   POU6F2   POU6F2-AS1   POU6F2-AS2   PPIA   PSMA2   PURB   RALA   RAMP3   SNHG15   SNORA20B   SNORA5A   SNORA5B   SNORA5C   SNORA9   SPDYE1   STARD3NL   STK17A   SUGCT   SUGCT-AS1   TARP   TBRG4   TMED4   TRG   TRG-AS1   TRGC1   TRGC2   TRGJ1   TRGJ2   TRGJP   TRGJP1   TRGJP2   TRGV2   TRGV3   TRGV4   TRGV5   TRGV8   TRGV9   UBE2D4   URGCP   URGCP-MRPS24   VPS41   YAE1   YKT6   ZMIZ2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_38177999)_(45304100_?)del
Human AssemblyChrPosition (strand)Source
GRCh38738,177,999 - 45,304,100CLINVAR
GRCh37738,217,601 - 45,343,699CLINVAR
Build 36738,184,126 - 45,310,224CLINVAR
Cytogenetic Map77p14.1-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489816
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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