Variant #0000324878 (NC_000016.9:g.71603783G>T, TAT(NM_000353.2):c.1099C>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.71603783G>T
DNA change (hg38) g.71569880G>T
Published as TAT(NM_000353.2):c.1099C>A (p.(Arg367Ser))
ISCN -
DB-ID TAT_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAT NM_000353.2 -?/. - c.1099C>A r.(?) p.(Arg367Ser)
CHST4 NM_005769.2 -?/. - c.*32042G>T r.(=) p.(=)
ZNF19 NM_006961.3 -?/. - c.-80798C>A r.(?) p.(=)