ClinVar

NM_004643.4(PABPN1):c.178C>T (p.Leu60=)

Genes:

BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23321647 (on Assembly GRCh38)
• Chr14: 23790856 (on Assembly GRCh37)

Preferred name:

NM_004643.4(PABPN1):c.178C>T (p.Leu60=)

HGVS:

• NC_000014.9:g.23321647C>T
• NG_008239.1:g.6460C>T
• NG_128768.1:g.538C>T
• NM_001199864.3:c.433-534C>T
• NM_001360551.3:c.178C>T
• NM_001387340.1:c.550-534C>T
• NM_001387341.1:c.529-534C>T
• NM_001387342.1:c.529-534C>T
• NM_001387343.1:c.529-534C>T
• NM_001387344.1:c.529-534C>T
• NM_001387345.1:c.433-534C>T
• NM_001387346.1:c.433-534C>T
• NM_004643.4:c.178C>TMANE SELECT
• NP_001347480.1:p.Leu60=
• NP_004634.1:p.Leu60=
• NC_000014.8:g.23790856C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001199864.3:c.433-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387340.1:c.550-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387341.1:c.529-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387342.1:c.529-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387343.1:c.529-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387344.1:c.529-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387345.1:c.433-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387346.1:c.433-534C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001360551.3:c.178C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004643.4:c.178C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1