Variant #0001026398 (NC_000014.8:g.65543187G>A, NM_002382.4:c.*7C>T (MAX))

Chromosome 14
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.65543187G>A
DNA change (hg38) -
Published as MAX(NM_001320415.1):c.*7C>T (p.(=))
ISCN -
DB-ID MAX_000014 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) 0.00037 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 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHURC1-FNTB NM_001202558.1 -?/. - c.*15157G>A r.(=) p.(=)
FNTB NM_002028.3 -?/. - c.*15157G>A r.(=) p.(=)
MAX NM_002382.4 -?/. - c.*7C>T r.(=) p.(=)


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