Variant #0000290975 (NC_000009.11:g.139094845G>A, NC_000009.11(NM_178138.4):c.79+1935C>T (LHX3))

Chromosome 9
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.139094845G>A
DNA change (hg38) g.136202999G>A
Published as LHX3(NM_014564.4):c.41C>T (p.A14V)
ISCN -
DB-ID LHX3_000007
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LHX3 NM_014564.3 ?/. - c.41C>T r.(?) p.(Ala14Val)
LHX3 NM_178138.4 ?/. - c.79+1935C>T r.(=) p.(=)
QSOX2 NM_181701.3 ?/. - c.*5729C>T r.(=) p.(=)


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