ClinVar

NM_000512.5(GALNS):c.1421A>C (p.Gln474Pro)

Genes:

LOC126862447:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 [Gene]
GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 88818068 (on Assembly GRCh38)
• Chr16: 88884476 (on Assembly GRCh37)

Preferred name:

NM_000512.5(GALNS):c.1421A>C (p.Gln474Pro)

HGVS:

• NC_000016.10:g.88818068T>G
• NG_008667.1:g.43899A>C
• NM_000512.5:c.1421A>CMANE SELECT
• NM_001323543.2:c.866A>C
• NM_001323544.2:c.1439A>C
• NP_000503.1:p.Gln474Pro
• NP_001310472.1:p.Gln289Pro
• NP_001310473.1:p.Gln480Pro
• NC_000016.9:g.88884476T>G

This HGVS expression did not pass validation

Protein change:

Q289P

Links:

dbSNP: rs794727090

NCBI 1000 Genomes Browser:

rs794727090

Molecular consequence:

• NM_000512.5:c.1421A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323543.2:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323544.2:c.1439A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1