ClinVar

NM_001902.6(CTH):c.381A>T (p.Glu127Asp)

Gene:

CTH:cystathionine gamma-lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 70421600 (on Assembly GRCh38)
• Chr1: 70887283 (on Assembly GRCh37)

Preferred name:

NM_001902.6(CTH):c.381A>T (p.Glu127Asp)

HGVS:

• NC_000001.11:g.70421600A>T
• NG_008041.1:g.15329A>T
• NM_001190463.2:c.285A>T
• NM_001902.6:c.381A>TMANE SELECT
• NM_153742.5:c.381A>T
• NP_001177392.1:p.Glu95Asp
• NP_001893.2:p.Glu127Asp
• NP_714964.2:p.Glu127Asp
• NC_000001.10:g.70887283A>T
• NM_001902.5:c.381A>T

This HGVS expression did not pass validation

Protein change:

E127D

Molecular consequence:

• NM_001190463.2:c.285A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001902.6:c.381A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153742.5:c.381A>T - missense variant - [Sequence Ontology: SO:0001583]