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Variant : CV73899 (GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1) Homo sapiens

Symbol: CV73899
Name: GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1
Condition: 2-3 toe syndactyly [RCV000053132]|See cases [RCV000053132]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY1   AEBP1   BLVRA   C7orf25   CAMK2B   CCM2   CDK13   COA1   DBNL   DDX56   GCK   GLI3   H2AZ2   HECW1   HECW1-IT1   INHBA   INHBA-AS1   LINC00957   LINC01448   LINC01449   LINC01450   LINC01952   LUARIS   MIR3943   MIR4649   MIR4657   MIR6837   MIR6838   MPLKIP   MRPL32   MRPS24   MYL7   MYO1G   NACAD   NPC1L1   NUDCD3   OGDH   PGAM2   POLD2   POLM   PPIA   PSMA2   PURB   RAMP3   SNHG15   SNORA5A   SNORA5B   SNORA5C   SNORA9   SPDYE1   STK17A   SUGCT   TBRG4   TMED4   UBE2D4   URGCP   URGCP-MRPS24   YKT6   ZMIZ2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_39814159)_(45749735_?)del
NC_000007.13:g.(?_39853758)_(45789334_?)del
NC_000007.12:g.(?_39820283)_(45755859_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38739,814,159 - 45,749,735CLINVAR
GRCh37739,853,758 - 45,789,334CLINVAR
Build 36739,820,283 - 45,755,859CLINVAR
Cytogenetic Map77p14.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620077
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.