ClinVar

NM_001308210.2(TSHZ1):c.276C>T (p.Ser92=)

Gene:

TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q22.3

Genomic location:

• Chr18: 75285683 (on Assembly GRCh38)
• Chr18: 72997638 (on Assembly GRCh37)

Preferred name:

NM_001308210.2(TSHZ1):c.276C>T (p.Ser92=)

HGVS:

• NC_000018.10:g.75285683C>T
• NG_032047.1:g.79929C>T
• NM_001308210.2:c.276C>TMANE SELECT
• NM_005786.5:c.141C>T
• NM_005786.6:c.141C>T
• NP_001295139.1:p.Ser92=
• NP_005777.3:p.Ser47=
• NC_000018.9:g.72997638C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001308210.2:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005786.6:c.141C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1