ClinVar

NM_000178.4(GSS):c.911C>T (p.Thr304Ile)

Gene:

GSS:glutathione synthetase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.22

Genomic location:

• Chr20: 34932057 (on Assembly GRCh38)
• Chr20: 33519860 (on Assembly GRCh37)

Preferred name:

NM_000178.4(GSS):c.911C>T (p.Thr304Ile)

Other names:

p.Thr304Ile

HGVS:

• NC_000020.11:g.34932057G>A
• NG_008848.2:g.28971C>T
• NM_000178.2:c.911C>T
• NM_000178.4:c.911C>TMANE SELECT
• NM_001322494.1:c.911C>T
• NM_001322495.1:c.911C>T
• NP_000169.1:p.Thr304Ile
• NP_001309423.1:p.Thr304Ile
• NP_001309424.1:p.Thr304Ile
• LRG_1168t1:c.911C>T
• LRG_1168:g.28971C>T
• LRG_1168p1:p.Thr304Ile
• NC_000020.10:g.33519860G>A
• NM_000178.3:c.911C>T
• NM_000178.4:c.911C>T

This HGVS expression did not pass validation

Protein change:

T304I

Links:

dbSNP: rs374498290

NCBI 1000 Genomes Browser:

rs374498290

Molecular consequence:

• NM_000178.4:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322494.1:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322495.1:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]