Variant #0000304664 (NC_000011.9:g.71727119T>C, NM_001145309.3:c.-65355T>C (LRTOMT))

Chromosome 11
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.71727119T>C
DNA change (hg38) g.72016073T>C
Published as NUMA1(NM_001286561.1):c.1430A>G (p.N477S)
ISCN -
DB-ID NUMA1_000002
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) 0.00318 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 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     
LRTOMT NM_001145309.3 -?/. - c.-65355T>C r.(?) p.(=)
NUMA1 NM_006185.2 -?/. - c.1430A>G r.(?) p.(Asn477Ser)


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