ClinVar

NM_003678.5(THOC5):c.1397C>T (p.Ser466Leu)

Gene:

THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

• Chr22: 29519098 (on Assembly GRCh38)
• Chr22: 29915087 (on Assembly GRCh37)

Preferred name:

NM_003678.5(THOC5):c.1397C>T (p.Ser466Leu)

HGVS:

• NC_000022.11:g.29519098G>A
• NM_001002877.2:c.1397C>T
• NM_001002878.1:c.1397C>T
• NM_001002879.1:c.1397C>T
• NM_003678.5:c.1397C>TMANE SELECT
• NP_001002877.1:p.Ser466Leu
• NP_001002878.1:p.Ser466Leu
• NP_001002879.1:p.Ser466Leu
• NP_003669.4:p.Ser466Leu
• NC_000022.10:g.29915087G>A

This HGVS expression did not pass validation

Protein change:

S466L

Molecular consequence:

• NM_001002877.2:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002878.1:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002879.1:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003678.5:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]