Variant #0000000650 (NC_000016.10:g.177359T>C, NM_000558.5:c.377T>C (HBA1))

Individual ID 00000119
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.177359T>C
Published as -
Reference Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0005)
DB-ID HBA1_000004
dbSNP ID rs41397847
Frequency 8/1925
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-03 11:52:01 +08:00 (CST)
Date last edited 2021-08-19 16:08:40 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBA1 NM_000558.5 ?/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000134 DNA ? HBA1 4 Nuur Athirah Binti Mohd Daud