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Variant : CV73676 (GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3) Homo sapiens

Symbol: CV73676
Name: GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3
Condition: Nonsyndromic microcephaly [RCV000052878]|See cases [RCV000052878]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD17A   ADAT3   AMH   AP3D1   APBA3   ATCAY   ATP8B3   BTBD2   C19orf71   CACTIN   CACTIN-AS1   CELF5   CSNK1G2   CSNK1G2-AS1   DAPK3   DIRAS1   DOHH   DOT1L   EEF2   FZR1   GADD45B   GIPC3   GNA11   GNA15   GNG7   HMG20B   IZUMO4   JSRP1   KLF16   LINC01775   LINGO3   LMNB2   LSM7   MAP2K2   MATK   MBD3   MEX3D   MFSD12   MIR1227   MIR1909   MIR4321   MIR637   MIR6789   MIR7108   MIR7850   MKNK2   MOB3A   MRPL54   NCLN   NFIC   NMRK2   OAZ1   ONECUT3   PEAK3   PIAS4   PIP5K1C   PLEKHJ1   RAX2   REXO1   S1PR4   SCAMP4   SF3A2   SGTA   SLC39A3   SMIM24   SNORD37   SPPL2B   TBXA2R   TCF3   THOP1   TIMM13   TJP3   TLE2   TLE5   TLE6   TMPRSS9   UQCR11   ZBTB7A   ZFR2   ZNF554   ZNF555   ZNF556   ZNF57   ZNF77  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_1565575)_(4108128_?)dup
NC_000019.9:g.(?_1565574)_(4108126_?)dup
NC_000019.8:g.(?_1516574)_(4059126_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38191,565,575 - 4,108,128CLINVAR
GRCh37191,565,574 - 4,108,126CLINVAR
Build 36191,516,574 - 4,059,126CLINVAR
Cytogenetic Map1919p13.3CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619848
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.