Variant #0000316240 (NC_000016.9:g.30381208T>G, NM_013292.3:c.-4971T>G (MYLPF))

Chromosome 16
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.30381208T>G
DNA change (hg38) g.30369887T>G
Published as TBC1D10B(NM_015527.4):c.297A>C (p.E99D)
ISCN -
DB-ID TBC1D10B_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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYLPF NM_013292.3 -?/. - c.-4971T>G r.(?) p.(=)
TBC1D10B NM_015527.3 -?/. - c.297A>C r.(?) p.(Glu99Asp)


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