Variant #0000079578 (NC_000016.9:g.29592782_30257228dup, NM_145239.2:c.-230928_*431269dup (PRRT2))

Individual ID 00050653
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29592782_30257228dup
DNA change (hg38) g.29581461_30245907dup
Published as -
ISCN -
DB-ID FAM57B_000004
Variant remarks increased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2018-03-07 06:40:58 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALDOA NM_000034.3 ./. - c.-472716_*175695dup - -
SLX1A NM_001014999.2 ./. - c.-612624_*48441dup - -
SPN NM_001030288.2 ./. - c.-81654_*580976dup - -
BOLA2B NM_001039182.1 ./. - c.-52114_*611514dup - -
MAPK3 NM_001040056.1 ./. - c.-122698_*533449dup - -
TMEM219 NM_001083613.1 ./. - c.-380709_*272991dup - -
C16orf92 NM_001109659.1 ./. - c.-441880_*221680dup - -
MAZ NM_002383.2 ./. - c.-225241_*435676dup - -
PPP4C NM_002720.1 ./. - c.-494697_*160845dup - -
DOC2A NM_003586.2 ./. - c.-235018_*424725dup - -
HIRIP3 NM_003609.4 ./. - c.-250302_*411746dup - -
TBX6 NM_004608.3 ./. - c.-154083_*504764dup - -
MVP NM_005115.4 ./. - c.-239085_*397918dup - -
CDIPT NM_006319.3 ./. - c.-383050_*277728dup - -
CORO1A NM_007074.3 ./. - c.-602266_*56943dup - -
KIF22 NM_007317.2 ./. - c.-209299_*440597dup - -
SEZ6L2 NM_012410.3 ./. - c.-346888_*290238dup - -
QPRT NM_014298.3 ./. - c.-97737_*548496dup - -
TAOK2 NM_016151.3 ./. - c.-393223_*257927dup - -
GDPD3 NM_024307.2 ./. - c.-132429_*523411dup - -
PAGR1 NM_024516.3 ./. - c.-235065_*426153dup - -
YPEL3 NM_031477.4 ./. - c.-150425_*511249dup - -
FAM57B NM_031478.4 ./. - c.-215380_*443722dup - -
PRRT2 NM_145239.2 ./. - c.-230928_*431269dup - -
ZG16 NM_152338.3 ./. - c.-196853_*465488dup - -
INO80E NM_173618.1 ./. - c.-414850_*240465dup - -
C16orf54 NM_175900.3 ./. - c.-499997_*162816dup - -
SULT1A3 NM_177552.3 ./. - c.-617871_*41987dup - -
KCTD13 NM_178863.3 ./. - c.-319874_*325411dup - -
ASPHD1 NM_181718.3 ./. - c.-319511_*340010dup - -
SLC7A5P1 NR_002593.1 ./. - n.-632190_*31642dup - -
SLX1A-SULT1A3 NR_037608.1 ./. - n.-612972_*41578dup - -
MIR3680-2 NR_049833.1 ./. - n.-646642_*17718dup - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050598 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


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