Variant #0000658848 (NC_000021.8:g.46131376G>A, NM_144991.2:c.54C>T (TSPEAR))

Chromosome 21
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.46131376G>A
DNA change (hg38) g.44711461G>A
Published as TSPEAR(NM_144991.2):c.54C>T (p.H18=)
ISCN -
DB-ID TSPEAR_000042
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) 0.00015 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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-16 22:44:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSPEAR NM_144991.2 -?/. - c.54C>T r.(?) p.(His18=)
KRTAP12-2 NM_181684.2 -?/. - c.-44573C>T r.(?) p.(=)
KRTAP12-1 NM_181686.1 -?/. - c.-29338C>T r.(?) p.(=)
KRTAP10-10 NM_181688.1 -?/. - c.*73286G>A r.(=) p.(=)
KRTAP10-4 NM_198687.1 -?/. - c.*136535G>A r.(=) p.(=)
KRTAP10-6 NM_198688.2 -?/. - c.-119011C>T r.(?) p.(=)
KRTAP10-7 NM_198689.2 -?/. - c.*109727G>A r.(=) p.(=)
KRTAP10-9 NM_198690.2 -?/. - c.*83409G>A r.(=) p.(=)
KRTAP10-1 NM_198691.2 -?/. - c.-171343C>T r.(?) p.(=)
KRTAP10-11 NM_198692.2 -?/. - c.*64104G>A r.(=) p.(=)
KRTAP10-2 NM_198693.2 -?/. - c.-160035C>T r.(?) p.(=)
KRTAP10-5 NM_198694.2 -?/. - c.-130921C>T r.(?) p.(=)
KRTAP10-8 NM_198695.2 -?/. - c.*98579G>A r.(=) p.(=)
KRTAP10-3 NM_198696.2 -?/. - c.-152778C>T r.(?) p.(=)
KRTAP12-3 NM_198697.2 -?/. - c.*53189G>A r.(=) p.(=)
KRTAP12-4 NM_198698.1 -?/. - c.-56845C>T r.(?) p.(=)
KRTAP10-12 NM_198699.1 -?/. - c.*13522G>A r.(=) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.