Variant #0000018146 (NC_000009.11:g.129377778T>C, NM_002316.3:c.256T>C (LMX1B))

Individual ID 00001273
Chromosome 9
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.129377778T>C
DNA change (hg38) g.126615499T>C
Published as c.256T>C
ISCN -
DB-ID LMX1B_000022
Variant remarks -
Reference PubMed: Clough et al. 1999
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2013-06-14 14:17:59 +02:00 (CEST)
Date last edited 2021-12-02 20:41:16 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LMX1B NM_001174146.1 ?/? - c.256T>C r.(?) p.(Cys86Arg)
LMX1B NM_001174147.1 ?/? - c.256T>C r.(?) p.(Cys86Arg)
LMX1B NM_002316.3 +/? 2 c.256T>C r.(?) p.(Cys86Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001040 DNA SEQ - - LMX1B 1 Philippe Campeau


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