Variant #0000079295 (NC_000016.9:g.29606538_30215625del, NM_145239.2:c.-217173_*389665del (PRRT2))

Individual ID 00050370
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.29606538_30215625del
DNA change (hg38) g.29595217_30204304del
Published as -
ISCN -
DB-ID FAM57B_000002
Variant remarks decreased 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 2020-07-09 15:08:42 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALDOA NM_000034.3 ./. - c.-458961_*134091del r.0? p.0?
SLX1A NM_001014999.2 ./. - c.-598869_*6837del - -
SPN NM_001030288.2 ./. - c.-67899_*539372del r.0? p.0?
BOLA2B NM_001039182.1 ./. - c.-10510_*597759del r.0? p.0?
MAPK3 NM_001040056.1 ./. - c.-81094_*519694del r.0? p.0?
TMEM219 NM_001083613.1 ./. - c.-366954_*231387del r.0? p.0?
C16orf92 NM_001109659.1 ./. - c.-428125_*180076del r.0? p.0?
MAZ NM_002383.2 ./. - c.-211486_*394072del r.0? p.0?
PPP4C NM_002720.1 ./. - c.-480942_*119241del r.0? p.0?
DOC2A NM_003586.2 ./. - c.-193414_*410970del r.0? p.0?
HIRIP3 NM_003609.4 ./. - c.-208698_*397991del r.0? p.0?
TBX6 NM_004608.3 ./. - c.-112479_*491009del r.0? p.0?
MVP NM_005115.4 ./. - c.-225330_*356314del r.0? p.0?
CDIPT NM_006319.3 ./. - c.-341446_*263973del r.0? p.0?
CORO1A NM_007074.3 ./. - c.-588511_*15339del r.0? p.0?
KIF22 NM_007317.2 ./. - c.-195544_*398993del r.0? p.0?
SEZ6L2 NM_012410.3 ./. - c.-305284_*276483del r.0? p.0?
QPRT NM_014298.3 ./. - c.-83982_*506892del r.0? p.0?
TAOK2 NM_016151.3 ./. - c.-379468_*216323del r.0? p.0?
GDPD3 NM_024307.2 ./. - c.-90825_*509656del r.0? p.0?
PAGR1 NM_024516.3 ./. - c.-221310_*384549del r.0? p.0?
YPEL3 NM_031477.4 ./. - c.-108821_*497494del r.0? p.0?
FAM57B NM_031478.4 ./. - c.-173776_*429967del r.0? p.0?
PRRT2 NM_145239.2 ./. - c.-217173_*389665del r.0? p.0?
ZG16 NM_152338.3 ./. - c.-183098_*423884del r.0? p.0?
INO80E NM_173618.1 ./. - c.-401095_*198861del r.0? p.0?
C16orf54 NM_175900.3 ./. - c.-458393_*149061del r.0? p.0?
SULT1A3 NM_177552.3 ./. - c.-604116_*383del - -
KCTD13 NM_178863.3 ./. - c.-278270_*311656del r.0? p.0?
ASPHD1 NM_181718.3 ./. - c.-305756_*298406del r.0? p.0?
SLC7A5P1 NR_002593.1 ./. - n.-590586_*17887del - -
SLX1A-SULT1A3 NR_037608.1 ./. - n.-599217_2192del - -
MIR3680-2 NR_049833.1 ./. - n.-605038_*3963del - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050315 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


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