ClinVar

NM_001606.5(ABCA2):c.3727C>T (p.Arg1243Trp)

Gene:

ABCA2:ATP binding cassette subfamily A member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137015068 (on Assembly GRCh38)
• Chr9: 139909520 (on Assembly GRCh37)

Preferred name:

NM_001606.5(ABCA2):c.3727C>T (p.Arg1243Trp)

HGVS:

• NC_000009.12:g.137015068G>A
• NG_011789.1:g.18855C>T
• NM_001411042.1:c.3724C>T
• NM_001606.5:c.3727C>TMANE SELECT
• NM_212533.3:c.3817C>T
• NP_001397971.1:p.Arg1242Trp
• NP_001597.2:p.Arg1243Trp
• NP_997698.1:p.Arg1273Trp
• NC_000009.11:g.139909520G>A
• NM_212533.2:c.3817C>T

This HGVS expression did not pass validation

Protein change:

R1242W

Molecular consequence:

• NM_001411042.1:c.3724C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001606.5:c.3727C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_212533.3:c.3817C>T - missense variant - [Sequence Ontology: SO:0001583]