ClinVar

NM_000155.4(GALT):c.203A>C (p.His68Pro)

Genes:

LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34647209 (on Assembly GRCh38)
• Chr9: 34647206 (on Assembly GRCh37)

Preferred name:

NM_000155.4(GALT):c.203A>C (p.His68Pro)

HGVS:

• NC_000009.12:g.34647209A>C
• NG_009029.2:g.5621A>C
• NG_028966.1:g.25A>C
• NM_000155.4:c.203A>CMANE SELECT
• NM_001258332.2:c.1A>C
• NP_000146.2:p.His68Pro
• NP_001245261.1:p.Met1Leu
• NC_000009.11:g.34647206A>C
• NM_000155.1:c.203A>C
• NM_000155.3:c.203A>C

This HGVS expression did not pass validation

Protein change:

H68P

Links:

dbSNP: rs193922247

NCBI 1000 Genomes Browser:

rs193922247

Molecular consequence:

• NM_001258332.2:c.1A>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_000155.4:c.203A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258332.2:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3