ClinVar

NM_001064.4(TKT):c.1353C>T (p.Gly451=)

Genes:

LOC126806684:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53261945-53263144 [Gene]
TKT:transketolase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

• Chr3: 53229049 (on Assembly GRCh38)
• Chr3: 53263065 (on Assembly GRCh37)

Preferred name:

NM_001064.4(TKT):c.1353C>T (p.Gly451=)

HGVS:

• NC_000003.12:g.53229049G>A
• NG_027815.1:g.32066C>T
• NM_001064.4:c.1353C>TMANE SELECT
• NM_001135055.3:c.1353C>T
• NM_001258028.2:c.1377C>T
• NP_001055.1:p.Gly451=
• NP_001128527.1:p.Gly451=
• NP_001128527.1:p.Gly451=
• NP_001244957.1:p.Gly459=
• NC_000003.11:g.53263065G>A
• NM_001135055.2:c.1353C>T
• NR_047580.2:n.1323C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs782503903

NCBI 1000 Genomes Browser:

rs782503903

Molecular consequence:

• NR_047580.2:n.1323C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001064.4:c.1353C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135055.3:c.1353C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258028.2:c.1377C>T - synonymous variant - [Sequence Ontology: SO:0001819]