ClinVar

NM_000155.4(GALT):c.605A>C (p.Glu202Ala)

Gene:

GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34648374 (on Assembly GRCh38)
• Chr9: 34648371 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.605A>C (p.Glu202Ala)

HGVS:

• NC_000009.12:g.34648374A>C
• NG_009029.2:g.6786A>C
• NG_028966.1:g.1190A>C
• NM_000155.4:c.605A>CMANE SELECT
• NM_001258332.2:c.278A>C
• NP_000146.2:p.Glu202Ala
• NP_001245261.1:p.Glu93Ala
• NC_000009.11:g.34648371A>C

This HGVS expression did not pass validation

Protein change:

E202A

Links:

dbSNP: rs886042062

NCBI 1000 Genomes Browser:

rs886042062

Molecular consequence:

• NM_000155.4:c.605A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.278A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1