Genomic variant #0000563377

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7758411G>C
DNA change (hg38) -
Published as TMEM88(NM_203411.1):c.19G>C (p.(Ala7Pro))
ISCN -
DB-ID CYB5D1_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KDM6B NM_001080424.1 -?/. - c.*1572G>C likely benign r.(=) p.(=)
LSMD1 NM_032356.3 -?/. - c.*1638C>G likely benign r.(=) p.(=)
CYB5D1 NM_144607.4 -?/. - c.-3042G>C likely benign r.(?) p.(=)
TMEM88 NM_203411.1 -?/. - c.19G>C likely benign r.(?) p.(Ala7Pro)