Genomic variant #0000036944

Individual ID 00016995
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.135095627C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC9A6_000007 See all 3 reported entries
Variant remarks Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs2291639
Origin Not applicable
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0286 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC9A6 NM_001042537.1 ?/? - c.1236+31C>A r.(=) p.(=)
SLC9A6 NM_006359.2 -/? 9i c.1236+31C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016972 DNA SEQ - - SLC9A6 5 Johan den Dunnen