Variant #0000561904 (NC_000017.10:g.42426791T>C, NC_000017.10(NM_002087.2):c.139-3T>C (GRN))

Chromosome 17
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.42426791T>C
DNA change (hg38) g.44349423T>C
Published as GRN(NM_002087.2):c.139-3T>C
ISCN -
DB-ID FAM171A2_000002 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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-13 16:39:57 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRN NM_002087.2 -?/. - c.139-3T>C r.spl? p.?
FAM171A2 NM_198475.2 -?/. - c.*4310A>G r.(=) p.(=)


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