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Variant : CV157985 (GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3) Homo sapiens

Symbol: CV157985
Name: GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3
Condition: See cases [RCV000137309]
Clinical Significance: likely pathogenic
Last Evaluated: 04/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BRK1   BRPF1   CAMK1   CAV3   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   LINC00312   LINC00606   LINC00852   LMCD1   LMCD1-AS1   MIR12127   MIR378B   MIR885   MKRN2   MKRN2OS   MTMR14   OGG1   OXTR   PPARG   PRRT3   PRRT3-AS1   RAD18   RAF1   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A1-AS1   SLC6A11   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SYN2   TADA3   TAMM41   TATDN2   THUMPD3   THUMPD3-AS1   TIMP4   TSEN2   TTLL3   VGLL4   VHL  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_7975734)_(12636917_?)dup
NC_000003.11:g.(?_8017421)_(12678416_?)dup
NC_000003.10:g.(?_7992421)_(12653416_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3837,975,734 - 12,636,917CLINVAR
GRCh3738,017,421 - 12,678,416CLINVAR
Build 3637,992,421 - 12,653,416CLINVAR
Cytogenetic Map33p26.1-25.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484866
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.