ClinVar

NM_031478.6(TLCD3B):c.182C>T (p.Thr61Ile)

Gene:

TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30029459 (on Assembly GRCh38)
• Chr16: 30040780 (on Assembly GRCh37)

Preferred name:

NM_031478.6(TLCD3B):c.182C>T (p.Thr61Ile)

HGVS:

• NC_000016.10:g.30029459G>A
• NM_001318504.2:c.32C>T
• NM_001352173.2:c.440C>T
• NM_031478.6:c.182C>TMANE SELECT
• NP_001305433.1:p.Thr11Ile
• NP_001339102.1:p.Thr147Ile
• NP_113666.2:p.Thr61Ile
• NC_000016.9:g.30040780G>A
• NM_031478.4:c.182C>T

This HGVS expression did not pass validation

Protein change:

T11I

Molecular consequence:

• NM_001318504.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352173.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031478.6:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]