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Variant : CV73142 (GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1) Homo sapiens

Symbol: CV73142
Name: GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1
Condition: Macrocephaly [RCV000052316]|See cases [RCV000052316]
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   CAMK2B   CCM2   DDX56   H2AZ2   IGFBP1   IGFBP3   LINC01952   MIR4657   MYO1G   NACAD   NPC1L1   NUDCD3   OGDH   PPIA   PURB   RAMP3   SNHG15   SNORA5A   SNORA5B   SNORA5C   SNORA9   TBRG4   TMED4   YKT6   ZMIZ2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_44193369)_(46558381_?)del
NC_000007.13:g.(?_44232968)_(46597979_?)del
NC_000007.12:g.(?_44199493)_(46564504_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38744,193,369 - 46,558,381CLINVAR
GRCh37744,232,968 - 46,597,979CLINVAR
Build 36744,199,493 - 46,564,504CLINVAR
Cytogenetic Map77p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619309
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.