ClinVar

NM_130852.3(BPIFA1):c.121C>T (p.Pro41Ser)

Gene:

BPIFA1:BPI fold containing family A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 33237832 (on Assembly GRCh38)
• Chr20: 31825638 (on Assembly GRCh37)

Preferred name:

NM_130852.3(BPIFA1):c.121C>T (p.Pro41Ser)

HGVS:

• NC_000020.11:g.33237832C>T
• NM_001243193.2:c.121C>T
• NM_016583.4:c.121C>T
• NM_130852.3:c.121C>TMANE SELECT
• NP_001230122.1:p.Pro41Ser
• NP_057667.1:p.Pro41Ser
• NP_570913.1:p.Pro41Ser
• NC_000020.10:g.31825638C>T
• NM_130852.2:c.121C>T

This HGVS expression did not pass validation

Protein change:

P41S

Molecular consequence:

• NM_001243193.2:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016583.4:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130852.3:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]