ClinVar

NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)

Gene:

FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p22.3

Genomic location:

• Chr9: 14784400 (on Assembly GRCh38)
• Chr9: 14784398 (on Assembly GRCh37)

Preferred name:

NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)

HGVS:

• NC_000009.12:g.14784400C>T
• NG_017005.2:g.130837G>A
• NM_001379081.2:c.4412G>AMANE SELECT
• NM_144966.7:c.4412G>A
• NP_001366010.1:p.Ser1471Asn
• NP_659403.4:p.Ser1471Asn
• NP_659403.4:p.Ser1471Asn
• NC_000009.11:g.14784398C>T
• NM_144966.5:c.4412G>A
• NR_163239.2:n.5167G>A

This HGVS expression did not pass validation

Protein change:

S1471N

Links:

dbSNP: rs200650442

NCBI 1000 Genomes Browser:

rs200650442

Molecular consequence:

• NM_001379081.2:c.4412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_144966.7:c.4412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163239.2:n.5167G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]