Variant #0000249477 (NC_000009.11:g.139981614A>C, NM_016219.4:c.163A>C (MAN1B1))

Chromosome 9
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.139981614A>C
DNA change (hg38) g.137087162A>C
Published as MAN1B1(NM_016219.5):c.163A>C (p.S55R)
ISCN -
DB-ID MAN1B1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAN1B1 NM_016219.4 -?/. - c.163A>C r.(?) p.(Ser55Arg)
UAP1L1 NM_207309.2 -?/. - c.*4433A>C r.(=) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.