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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: 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   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   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_38177999)_(45304100_?)del
NC_000007.13:g.(?_38217601)_(45343699_?)del
Position
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
 
CRRD Object Information
CRRD ID: 9489816
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.