Variant #0000560708 (NC_000017.10:g.26694483A>G, NM_080669.4:c.*32189T>C (SLC46A1))

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.26694483A>G
DNA change (hg38) g.28367462A>G
Published as -
ISCN -
DB-ID SEBOX_000001
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) 0.10958 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VTN NM_000638.3 -/. - c.1344T>C r.(?) p.(Asn448=)
SEBOX NM_001080837.2 -/. - c.-2232T>C r.(?) p.(=)
SARM1 NM_015077.2 -/. - c.-4571A>G r.(?) p.(=)
SLC46A1 NM_080669.4 -/. - c.*32189T>C r.(=) p.(=)
TMEM199 NM_152464.1 -/. - c.*6209A>G r.(=) p.(=)


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