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Variant : CV610988 (NC_000012.12:g.(1_3750000)_(5250000_9000000)del) Homo sapiens

Symbol: CV610988
Name: NC_000012.12:g.(1_3750000)_(5250000_9000000)del
Condition: Hyperphosphatemic familial tumoral calcinosis 1 [RCV000758697]|Tumoral calcinosis, familial, hyperphosphatemic [RCV000758697]
Clinical Significance: pathogenic
Last Evaluated: 06/26/2017
Review Status: no assertion criteria provided
Related Genes: A2ML1   ACRBP   ACSM4   ADIPOR2   AICDA   AKAP3   ANO2   APOBEC1   ATN1   B4GALNT3   C12orf4   C12orf57   C1R   C1RL   C1RL-AS1   C1S   C3AR1   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   CCND2   CCND2-AS1   CD163   CD163L1   CD27   CD27-AS1   CD4   CD9   CDCA3   CHD4   CLEC4A   CLEC4C   CLEC4D   CLEC4E   CLEC6A   CLSTN3   COPS7A   CRACR2A   DCP1B   DPPA3   DYRK4   EMG1   ENO2   ERC1   FAM138D   FAM66C   FAM90A1   FBXL14   FGF23   FGF6   FKBP4   FOXJ2   FOXM1   GALNT8   GAPDH   GAU1   GDF3   GNB3   GPR162   IFFO1   ING4   IQSEC3   ITFG2   ITFG2-AS1   KCNA1   KCNA5   KCNA6   KDM5A   KLRG1   LAG3   LINC00937   LINC00940   LINC00942   LINC02417   LINC02443   LINC02449   LINC02455   LINC02827   LPAR5   LPCAT3   LRRC23   LRTM2   LTBR   M6PR   MFAP5   MIR141   MIR200C   MIR200CHG   MIR3649   MLF2   MRPL51   NANOG   NANOGNB   NCAPD2   NDUFA9   NECAP1   NINJ2   NINJ2-AS1   NOP2   NRIP2   NTF3   P3H3   PARP11   PARP11-AS1   PEX5   PHB2   PHC1   PIANP   PLEKHG6   PRMT8   PTMS   PTPN6   RAD51AP1   RAD52   RBP5   RHNO1   RIMKLB   RNU7-1   SCARNA10   SCARNA11   SCARNA12   SCNN1A   SLC2A14   SLC2A3   SLC6A12   SLC6A13   SNORA120   SPSB2   TAPBPL   TEAD4   TEX52   TIGAR   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WNK1   WNT5B   ZNF384   ZNF705A  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): NC_000012.12:g.(1_3750000)_(5250000_9000000)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38123,750,000 - 5,250,000CLINVAR
Cytogenetic Map1212p13.33-13.31CLINVAR
Trait Synonyms: CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA; LIPOCALCINOGRANULOMATOSIS; MORBUS TEUTSCHLAENDER; TEUTSCHLAENDER DISEASE, FAMILIAL; TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14395239
Created: 2019-04-09
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.