Variant #0000329121 (NC_000022.10:g.50943101A>G, NM_005138.2:c.*18939T>C (SCO2))

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.50943101A>G
DNA change (hg38) g.50504672A>G
Published as LMF2(NM_033200.2):c.1493T>C (p.(Val498Ala))
ISCN -
DB-ID LMF2_000003
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) 0.0002 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCO2 NM_005138.2 ?/. - c.*18939T>C r.(=) p.(=)
LMF2 NM_033200.2 ?/. - c.1493T>C r.(?) p.(Val498Ala)
NCAPH2 NM_152299.3 ?/. - c.-3666A>G r.(?) p.(=)


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