ClinVar

NM_005411.5(SFTPA1):c.630C>T (p.Asn210=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

• Chr10: 79613996 (on Assembly GRCh38)
• Chr10: 81373752 (on Assembly GRCh37)

Preferred name:

NM_005411.5(SFTPA1):c.630C>T (p.Asn210=)

HGVS:

• NC_000010.11:g.79613996C>T
• NG_021189.1:g.8058C>T
• NM_001093770.3:c.675C>T
• NM_001164644.2:c.630C>T
• NM_001164645.2:c.528C>T
• NM_001164646.2:c.483C>T
• NM_001164647.1:c.630C>T
• NM_005411.5:c.630C>TMANE SELECT
• NP_001087239.2:p.Asn225=
• NP_001158116.1:p.Asn210=
• NP_001158117.1:p.Asn176=
• NP_001158118.1:p.Asn161=
• NP_001158119.1:p.Asn210=
• NP_005402.3:p.Asn210=
• NC_000010.10:g.81373752C>T
• NM_005411.4:c.630C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001093770.3:c.675C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164644.2:c.630C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164645.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164646.2:c.483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164647.1:c.630C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005411.5:c.630C>T - synonymous variant - [Sequence Ontology: SO:0001819]