Variant #0000608351 (NC_000003.11:g.14172405G>A, NM_024334.2:c.246G>A (TMEM43))

Chromosome 3
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.14172405G>A
DNA change (hg38) g.14130905G>A
Published as TMEM43(NM_024334.3):c.246G>A (p.P82=)
ISCN -
DB-ID TMEM43_000095 See all 2 reported entries
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) 7.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 14:54:23 +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     

P-domain     
TMEM43 NM_024334.2 -?/. - c.246G>A r.(?) p.(Pro82=) -


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