ClinVar

NM_000369.5(TSHR):c.528C>T (p.Cys176=)

Gene:

TSHR:thyroid stimulating hormone receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.1

Genomic location:

• Chr14: 81092591 (on Assembly GRCh38)
• Chr14: 81558935 (on Assembly GRCh37)

Preferred name:

NM_000369.5(TSHR):c.528C>T (p.Cys176=)

HGVS:

• NC_000014.9:g.81092591C>T
• NG_009206.1:g.142067C>T
• NM_000369.5:c.528C>TMANE SELECT
• NM_001018036.3:c.528C>T
• NM_001142626.3:c.528C>T
• NP_000360.2:p.Cys176=
• NP_000360.2:p.Cys176=
• NP_001018046.1:p.Cys176=
• NP_001136098.1:p.Cys176=
• LRG_523t1:c.528C>T
• LRG_523:g.142067C>T
• LRG_523p1:p.Cys176=
• NC_000014.8:g.81558935C>T
• NM_000369.2:c.528C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000369.5:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001018036.3:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142626.3:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]