ClinVar

NM_000153.4(GALC):c.673G>A (p.Ala225Thr)

Gene:

GALC:galactosylceramidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 87976437 (on Assembly GRCh38)
• Chr14: 88442781 (on Assembly GRCh37)

Preferred name:

NM_000153.4(GALC):c.673G>A (p.Ala225Thr)

HGVS:

• NC_000014.9:g.87976437C>T
• NG_011853.3:g.22127G>A
• NM_000153.4:c.673G>AMANE SELECT
• NM_001201401.2:c.604G>A
• NM_001201402.2:c.595G>A
• NP_000144.2:p.Ala225Thr
• NP_001188330.1:p.Ala202Thr
• NP_001188331.1:p.Ala199Thr
• NC_000014.8:g.88442781C>T
• NG_011853.2:g.22127G>A
• NM_000153.3:c.673G>A
• p.Ala225Thr

This HGVS expression did not pass validation

Protein change:

A199T

Links:

dbSNP: rs1436074042

NCBI 1000 Genomes Browser:

rs1436074042

Molecular consequence:

• NM_000153.4:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201401.2:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201402.2:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1