Variant #0000079495 (NC_000001.10:g.145752381_148936712del, NM_005267.4:c.-1622618_*1555328del (GJA8))

Individual ID 00050570
Chromosome 1
Allele Paternal (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.145752381_148936712del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACP6_000003
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 2025-03-09 21:56:26 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPR89A NM_001097612.1 ./. - c.-3109783_*12638del r.? p.?
GPR89C NM_001097616.1 ./. - c.-131487_*3013269del r.? p.?
NBPF24 NM_001101663.2 ./. - c.-1337324_*1823792del r.? p.?
NBPF16 NM_001102663.1 ./. - c.-2987252_*180028del r.? p.?
PPIAL4E NM_001144032.1 +/. - c.-2891705_*292132del r.0? p.0?
PPIAL4D NM_001164261.1 ./. - c.-734251_*2449586del r.? p.?
PPIAL4F NM_001164262.1 +/. - c.-3053709_*130128del r.0? p.0?
PDZK1 NM_001201325.1 +/. - c.461-47_*3173089del r.0? p.0?
FMO5 NM_001461.2 ./. - c.-2239871_*906098del r.? p.?
CHD1L NM_004284.4 ./. - c.-961973_*2169522del r.? p.?
BCL9 NM_004326.2 ./. - c.-1261541_*1839952del r.? p.?
GJA5 NM_005266.6 ./. - c.-1691390_*1477889del r.0? p.0?
GJA8 NM_005267.4 ./. - c.-1622618_*1555328del r.? p.?
PRKAB2 NM_005399.3 ./. - c.-2292728_*878763del r.? p.?
NBPF14 NM_015383.1 ./. - c.-910881_*2252167del r.0? p.0?
GPR89B NM_016334.3 ./. - c.-1648269_*1471563del r.? p.?
ACP6 NM_016361.3 ./. - c.-1794542_*1366844del r.? p.?
NBPF15 NM_173638.3 ./. - c.-2809098_*342072del r.? p.?
PPIAL4A NM_178230.1 ./. - c.-981368_*2202469del r.? p.?
NBPF11 NM_183372.4 ./. - c.-2854936_*282011del r.? p.?
PDZK1P1 NR_003377.2 ./. - n.-2994093_*172007del r.0? p.0?
LINC00624 NR_038423.1 ./. - n.-1947013_*1101533del r.0? p.0?
HYDIN2 NR_049745.1 ./. - n.-558171_*2602502del r.0? p.0?
MIR5087 NR_049810.1 ./. - n.-1130034_*2054222del r.0? p.0?
NBPF13P NR_103466.1 ./. - n.-2350784_*818685del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050515 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


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