Variant #0000075432 (NC_000023.10:g.153063532_153063533del, SSR4(NM_006280.2):c.358_359del)

Individual ID 00046792
Chromosome X
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.153063532_153063533del
DNA change (hg38) g.153798077_153798078del
Published as 356_357delAG
ISCN -
DB-ID SSR4_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Bobby Ng
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SSR4 NM_006280.2 +/. 5 c.358_359del r.(?) p.(Arg120Glufs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046901 DNA SEQ-NG Blood - - 1 Bobby Ng