ClinVar

NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153743257 (on Assembly GRCh38)
• ChrX: 153008711 (on Assembly GRCh37)

Preferred name:

NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)

HGVS:

• NC_000023.11:g.153743257C>T
• NG_009022.2:g.23390C>T
• NM_000033.4:c.1902C>TMANE SELECT
• NP_000024.2:p.Ala634=
• LRG_1017t1:c.1902C>T
• LRG_1017:g.23390C>T
• LRG_1017p1:p.Ala634=
• NC_000023.10:g.153008711C>T
• NM_000033.3:c.1902C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141110958

NCBI 1000 Genomes Browser:

rs141110958

Molecular consequence:

• NM_000033.4:c.1902C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1