Genomic variant #0000335357

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119500449G>A
DNA change (hg38) -
Published as ATP1B4(NM_001142447.2):c.133G>A (p.(Val45Met))
ISCN -
DB-ID ATP1B4_000018
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP1B4 NM_001142447.2 ?/. - c.133G>A VUS r.(?) p.(Val45Met)