Variant #0000260662 (NC_000004.11:g.178357483T>C, AGA(NM_000027.3):c.645A>G)

Chromosome 4
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.178357483T>C
DNA change (hg38) g.177436329T>C
Published as AGA(NM_000027.3):c.645A>G (p.T215=)
ISCN -
DB-ID AGA_000035 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -?/. - c.645A>G r.(?) p.(Thr215=)