ClinVar

NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)

Gene:

AHCY:adenosylhomocysteinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.22

Genomic location:

• Chr20: 34281110 (on Assembly GRCh38)
• Chr20: 32868916 (on Assembly GRCh37)

Preferred name:

NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)

HGVS:

• NC_000020.11:g.34281110T>A
• NG_012630.2:g.35693A>T
• NG_012630.3:g.35726A>T
• NM_000687.4:c.1223A>TMANE SELECT
• NM_001161766.2:c.1139A>T
• NM_001322084.2:c.1139A>T
• NM_001322085.2:c.1139A>T
• NM_001322086.2:c.1229A>T
• NM_001362750.2:c.1223A>T
• NP_000678.1:p.Lys408Met
• NP_001155238.1:p.Lys380Met
• NP_001309013.1:p.Lys380Met
• NP_001309014.1:p.Lys380Met
• NP_001309015.1:p.Lys410Met
• NP_001349679.1:p.Lys408Met
• NC_000020.10:g.32868916T>A

This HGVS expression did not pass validation

Protein change:

K380M

Molecular consequence:

• NM_000687.4:c.1223A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161766.2:c.1139A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322084.2:c.1139A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322085.2:c.1139A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322086.2:c.1229A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362750.2:c.1223A>T - missense variant - [Sequence Ontology: SO:0001583]