ClinVar

NM_003288.4(TPD52L2):c.575C>T (p.Ser192Leu)

Gene:

TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63889899 (on Assembly GRCh38)
• Chr20: 62521252 (on Assembly GRCh37)

Preferred name:

NM_003288.4(TPD52L2):c.575C>T (p.Ser192Leu)

HGVS:

• NC_000020.11:g.63889899C>T
• NG_029863.1:g.29672C>T
• NM_001243891.2:c.500C>T
• NM_001243892.2:c.446C>T
• NM_001243894.2:c.413C>T
• NM_001243895.2:c.526C>T
• NM_003288.4:c.575C>TMANE SELECT
• NM_199359.3:c.515C>T
• NM_199360.3:c.644C>T
• NM_199361.3:c.584C>T
• NM_199362.3:c.617C>T
• NM_199363.3:c.557C>T
• NP_001230820.1:p.Ser167Leu
• NP_001230821.1:p.Ser149Leu
• NP_001230823.1:p.Ser138Leu
• NP_001230824.1:p.Gln176Ter
• NP_003279.2:p.Ser192Leu
• NP_955391.1:p.Ser172Leu
• NP_955392.1:p.Ser215Leu
• NP_955393.1:p.Ser195Leu
• NP_955394.1:p.Ser206Leu
• NP_955395.1:p.Ser186Leu
• NC_000020.10:g.62521252C>T
• NM_199360.2:c.644C>T
• NR_045090.2:n.640C>T

This HGVS expression did not pass validation

Protein change:

Q176*

Molecular consequence:

• NM_001243891.2:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243892.2:c.446C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243894.2:c.413C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003288.4:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199359.3:c.515C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199360.3:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199361.3:c.584C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199362.3:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199363.3:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045090.2:n.640C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001243895.2:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]