ClinVar

NM_000153.4(GALC):c.832A>C (p.Thr278Pro)

Gene:

GALC:galactosylceramidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 87968411 (on Assembly GRCh38)
• Chr14: 88434755 (on Assembly GRCh37)

Preferred name:

NM_000153.4(GALC):c.832A>C (p.Thr278Pro)

HGVS:

• NC_000014.9:g.87968411T>G
• NG_011853.3:g.30153A>C
• NM_000153.4:c.832A>CMANE SELECT
• NM_001201401.2:c.763A>C
• NM_001201402.2:c.754A>C
• NP_000144.2:p.Thr278Pro
• NP_001188330.1:p.Thr255Pro
• NP_001188331.1:p.Thr252Pro
• NC_000014.8:g.88434755T>G
• NG_011853.2:g.30153A>C

This HGVS expression did not pass validation

Protein change:

T252P

Links:

dbSNP: rs886042645

NCBI 1000 Genomes Browser:

rs886042645

Molecular consequence:

• NM_000153.4:c.832A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201401.2:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201402.2:c.754A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2