Genomic variant #0000036937

Individual ID 00016987
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.135095545A>C
DNA change (hg38) -
Published as NM_006359.2:c.1089A>C (A363A)
ISCN -
DB-ID SLC9A6_000001 See all 3 reported entries
Variant remarks found once, non-recurrent change
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00483 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC9A6 NM_006359.2 ?/? 9 c.1185A>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016964 DNA SEQ - - SLC9A6 1 Lucy Raymond