ClinVar

NM_005411.5(SFTPA1):c.542A>T (p.Tyr181Phe)

Gene:

SFTPA1:surfactant protein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

• Chr10: 79613908 (on Assembly GRCh38)
• Chr10: 81373664 (on Assembly GRCh37)

Preferred name:

NM_005411.5(SFTPA1):c.542A>T (p.Tyr181Phe)

HGVS:

• NC_000010.11:g.79613908A>T
• NG_021189.1:g.7970A>T
• NM_001093770.3:c.587A>T
• NM_001164644.2:c.542A>T
• NM_001164645.2:c.440A>T
• NM_001164646.2:c.395A>T
• NM_001164647.1:c.542A>T
• NM_005411.5:c.542A>TMANE SELECT
• NP_001087239.2:p.Tyr196Phe
• NP_001158116.1:p.Tyr181Phe
• NP_001158117.1:p.Tyr147Phe
• NP_001158118.1:p.Tyr132Phe
• NP_001158119.1:p.Tyr181Phe
• NP_005402.3:p.Tyr181Phe
• NC_000010.10:g.81373664A>T
• NM_005411.4:c.542A>T

This HGVS expression did not pass validation

Protein change:

Y132F

Molecular consequence:

• NM_001093770.3:c.587A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164644.2:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164645.2:c.440A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164646.2:c.395A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164647.1:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005411.5:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]