ClinVar

NM_003287.4(TPD52L1):c.503C>T (p.Thr168Met)

Gene:

TPD52L1:TPD52 like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.31

Genomic location:

• Chr6: 125262850 (on Assembly GRCh38)
• Chr6: 125583996 (on Assembly GRCh37)

Preferred name:

NM_003287.4(TPD52L1):c.503C>T (p.Thr168Met)

HGVS:

• NC_000006.12:g.125262850C>T
• NG_029911.1:g.114118C>T
• NG_109152.1:g.556C>T
• NG_109153.1:g.42C>T
• NM_001003395.3:c.416C>T
• NM_001003396.3:c.*7C>T
• NM_001003397.3:c.*7C>T
• NM_001292026.3:c.*7C>T
• NM_001300994.3:c.464C>T
• NM_001318903.2:c.518C>T
• NM_001318907.2:c.*7C>T
• NM_003287.4:c.503C>TMANE SELECT
• NP_001003395.1:p.Thr139Met
• NP_001287923.1:p.Thr155Met
• NP_001305832.1:p.Thr173Met
• NP_003278.1:p.Thr168Met
• NC_000006.11:g.125583996C>T
• NM_003287.2:c.503C>T

This HGVS expression did not pass validation

Protein change:

T139M

Molecular consequence:

• NM_001003396.3:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001003397.3:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001292026.3:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001318907.2:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001003395.3:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300994.3:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318903.2:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003287.4:c.503C>T - missense variant - [Sequence Ontology: SO:0001583]