ClinVar

NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)

Gene:

ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153743300 (on Assembly GRCh38)
• ChrX: 153008754 (on Assembly GRCh37)

Preferred name:

NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)

HGVS:

• NC_000023.11:g.153743300G>A
• NG_009022.2:g.23433G>A
• NG_147801.1:g.670G>A
• NM_000033.4:c.1945G>AMANE SELECT
• NP_000024.2:p.Asp649Asn
• LRG_1017t1:c.1945G>A
• LRG_1017:g.23433G>A
• LRG_1017p1:p.Asp649Asn
• NC_000023.10:g.153008754G>A

This HGVS expression did not pass validation

Protein change:

D649N

Molecular consequence:

• NM_000033.4:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1