ClinVar

NM_133443.4(GPT2):c.600C>T (p.Ser200=)

Gene:

GPT2:glutamic--pyruvic transaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q11.2

Genomic location:

• Chr16: 46909707 (on Assembly GRCh38)
• Chr16: 46943619 (on Assembly GRCh37)

Preferred name:

NM_133443.4(GPT2):c.600C>T (p.Ser200=)

HGVS:

• NC_000016.10:g.46909707C>T
• NG_042110.1:g.30328C>T
• NM_001142466.3:c.300C>T
• NM_133443.4:c.600C>TMANE SELECT
• NP_001135938.1:p.Ser100=
• NP_597700.1:p.Ser200=
• NC_000016.9:g.46943619C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001142466.3:c.300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133443.4:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1