ClinVar

NM_000153.4(GALC):c.984G>A (p.Gln328=)

Gene:

GALC:galactosylceramidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 87965554 (on Assembly GRCh38)
• Chr14: 88431898 (on Assembly GRCh37)

Preferred name:

NM_000153.4(GALC):c.984G>A (p.Gln328=)

HGVS:

• NC_000014.9:g.87965554C>T
• NG_011853.3:g.33010G>A
• NM_000153.4:c.984G>AMANE SELECT
• NM_001201401.2:c.915G>A
• NM_001201402.2:c.906G>A
• NP_000144.2:p.Gln328=
• NP_001188330.1:p.Gln305=
• NP_001188331.1:p.Gln302=
• NC_000014.8:g.88431898C>T
• NG_011853.2:g.33010G>A
• NM_000153.3:c.984G>A
• NP_000144.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs12888666

NCBI 1000 Genomes Browser:

rs12888666

Molecular consequence:

• NM_000153.4:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001201401.2:c.915G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001201402.2:c.906G>A - synonymous variant - [Sequence Ontology: SO:0001819]