ClinVar

NM_000027.4(AGA):c.365C>A (p.Thr122Lys)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

• Chr4: 177439605 (on Assembly GRCh38)
• Chr4: 178360759 (on Assembly GRCh37)

Preferred name:

NM_000027.4(AGA):c.365C>A (p.Thr122Lys)

HGVS:

• NC_000004.12:g.177439605G>T
• NG_011845.2:g.7899C>A
• NM_000027.4:c.365C>AMANE SELECT
• NM_001171988.2:c.365C>A
• NP_000018.2:p.Thr122Lys
• NP_001165459.1:p.Thr122Lys
• NC_000004.11:g.178360759G>T
• NM_000027.3:c.365C>A
• NR_033655.2:n.427C>A

This HGVS expression did not pass validation

Protein change:

T122K

Links:

dbSNP: rs771563230

NCBI 1000 Genomes Browser:

rs771563230

Molecular consequence:

• NM_000027.4:c.365C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171988.2:c.365C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_033655.2:n.427C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1