Genomic variant #0000573250

Chromosome X
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.119509272C>T
DNA change (hg38) -
Published as ATP1B4(NM_001142447.3):c.608C>T (p.P203L)
ISCN -
DB-ID ATP1B4_000025
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) 9.0E-5 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP1B4 NM_001142447.2 -?/. - c.608C>T likely benign r.(?) p.(Pro203Leu)