ClinVar

NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)

Gene:

TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 92003563 (on Assembly GRCh38)
• Chr14: 92469907 (on Assembly GRCh37)

Preferred name:

NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)

HGVS:

• NC_000014.9:g.92003563T>G
• NG_016970.1:g.41497A>C
• NM_001321851.1:c.4410A>C
• NM_004239.4:c.4413A>CMANE SELECT
• NP_001308780.1:p.Thr1470=
• NP_004230.2:p.Thr1471=
• NC_000014.8:g.92469907T>G
• NM_004239.3:c.4413A>C
• p.Thr1471Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs144780536

NCBI 1000 Genomes Browser:

rs144780536

Molecular consequence:

• NM_001321851.1:c.4410A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004239.4:c.4413A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1