Genomic variant #0000000127

Individual ID 00000026
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156848918C>T
DNA change (hg38) g.156879126C>T
Published as -
ISCN -
DB-ID NTRK1_000163 See all 15 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.04398 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NTRK1 NM_002529.3 ?/. 15 c.1810C>T - r.(?) p.(His604Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000026 DNA SEQ-NG - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy