ClinVar

NM_005411.5(SFTPA1):c.337G>A (p.Asp113Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

• Chr10: 79613233 (on Assembly GRCh38)
• Chr10: 81372989 (on Assembly GRCh37)

Preferred name:

NM_005411.5(SFTPA1):c.337G>A (p.Asp113Asn)

HGVS:

• NC_000010.11:g.79613233G>A
• NG_021189.1:g.7295G>A
• NM_001093770.3:c.382G>A
• NM_001164644.2:c.337G>A
• NM_001164645.2:c.235G>A
• NM_001164646.2:c.190G>A
• NM_001164647.1:c.337G>A
• NM_005411.5:c.337G>AMANE SELECT
• NP_001087239.2:p.Asp128Asn
• NP_001158116.1:p.Asp113Asn
• NP_001158117.1:p.Asp79Asn
• NP_001158118.1:p.Asp64Asn
• NP_001158119.1:p.Asp113Asn
• NP_005402.3:p.Asp113Asn
• NC_000010.10:g.81372989G>A
• NM_005411.4:c.337G>A

This HGVS expression did not pass validation

Protein change:

D113N

Molecular consequence:

• NM_001093770.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164644.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164645.2:c.235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164646.2:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164647.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005411.5:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]