Variant #0000079340 (NC_000015.9:g.30384204_32921879del, NM_002420.5:c.-1528083_*909821del (TRPM1))

Individual ID 00050415
Chromosome 15
Allele Unknown
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.30384204_32921879del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ARHGAP11A_000002
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
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 2025-01-25 18:42:35 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGAP11B NM_001039841.1 ./. - c.-534820_*1990934del r.? p.?
CHRNA7 NM_001190455.2 ./. - c.-1938594_*461220del r.? p.?
TRPM1 NM_001252020.1 +/. - c.-1468717_*909821del r.0? p.0?
TRPM1 NM_001252024.1 +/. - c.-1528103_*909821del r.0? p.0?
GOLGA8O NM_001277308.1 ./. - c.-174142_*2353103del r.0? p.0?
TRPM1 NM_002420.5 ./. - c.-1528083_*909821del r.? p.?
ARHGAP11A NM_014783.3 ./. - c.-2524209_1021del r.? p.?
FAN1 NM_014967.4 ./. - c.-812163_*1688114del r.? p.?
KLF13 NM_015995.2 ./. - c.-1235212_*1257377del r.? p.?
MTMR10 NM_017762.2 ./. - c.-1638170_*849469del r.? p.?
CHRFAM7A NM_148911.1 ./. - c.-2236790_*270292del r.? p.?
ULK4P1 NR_026858.1 ./. - n.-194629_*2314608del r.0? p.0?
ULK4P3 NR_026859.1 ./. - n.-11731_*2497928del r.0? p.0?
ULK4P2 NR_027470.1 ./. - n.-480554_*2028968del r.0? p.0?
MIR211 NR_029624.1 ./. - n.-1564535_*973031del r.0? p.0?
GOLGA8T NR_033933.1 ./. - n.-43786_*2482484del r.0? p.0?
WHAMMP1 NR_036650.1 ./. - n.-95937_*2427845del r.0? p.0?
HERC2P10 NR_072991.1 ./. - n.-726035_*1801893del r.0? p.0?
GOLGA8J XM_001724382.4 ./. - c.1217-497_*2536177del - -
GOLGA8H XM_002343357.3 ./. - c.-512125_*2015115del r.? p.?
GOLGA8K XM_003118652.2 ./. - c.-226484_*2300779del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050360 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen


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