ClinVar

NM_018358.3(ABCF3):c.1244G>A (p.Ser415Asn)

Gene:

ABCF3:ATP binding cassette subfamily F member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184189687 (on Assembly GRCh38)
• Chr3: 183907475 (on Assembly GRCh37)

Preferred name:

NM_018358.3(ABCF3):c.1244G>A (p.Ser415Asn)

HGVS:

• NC_000003.12:g.184189687G>A
• NG_054899.1:g.8613G>A
• NM_001351298.2:c.1226G>A
• NM_001351299.2:c.515G>A
• NM_001351300.2:c.581G>A
• NM_018358.3:c.1244G>AMANE SELECT
• NP_001338227.1:p.Ser409Asn
• NP_001338228.1:p.Ser172Asn
• NP_001338229.1:p.Ser194Asn
• NP_060828.2:p.Ser415Asn
• NC_000003.11:g.183907475G>A
• NM_018358.2:c.1244G>A

This HGVS expression did not pass validation

Protein change:

S172N

Molecular consequence:

• NM_001351298.2:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351299.2:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351300.2:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018358.3:c.1244G>A - missense variant - [Sequence Ontology: SO:0001583]