Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV205031 (GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)) Homo sapiens

Symbol: CV205031
Name: GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
Condition: Intellectual disability, mild [RCV000190520]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 02/19/2016
Review Status: no assertion criteria provided
Related Genes: ABCD4   ACOT1   ACOT2   ACOT4   ACOT6   ACYP1   ALDH6A1   ANGEL1   AREL1   BATF   BBOF1   CIPC   COQ6   DCAF4   DLST   DNAL1   DPF3   EIF2B2   ENTPD5   ERG28   ESRRB   FAM161B   FCF1   FLVCR2   FOS   GPATCH2L   HEATR4   IFT43   IRF2BPL   ISCA2   JDP2   LIN52   LRRC74A   LTBP2   MIDEAS   MLH3   NEK9   NPC2   NUMB   PAPLN   PGF   PNMA1   PROX2   PSEN1   PTGR2   RBM25   RIOX1   RPS6KL1   SYNDIG1L   TGFB3   TMED10   TMEM63C   TTLL5   VASH1   VRTN   VSX2   YLPM1   ZC2HC1C   ZDHHC22   ZFYVE1   ZNF410  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing|research
Human AssemblyChrPosition (strand)Source
GRCh371473,152,115 - 77,698,582CLINVAR
Cytogenetic Map1414q24.2-24.3CLINVAR
Trait Synonyms: Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/Hypoplasia of the thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation; Multiple skeletal anomalies; Thumb aplasia/hypoplasia; Ventricular septal defect; Ventriculoseptal defect

Disease Annotations
References - curated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 10401335
Created: 2015-10-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.