ClinVar

NM_004239.4(TRIP11):c.1532T>A (p.Met511Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

• Chr14: 92006444 (on Assembly GRCh38)
• Chr14: 92472788 (on Assembly GRCh37)

Preferred name:

NM_004239.4(TRIP11):c.1532T>A (p.Met511Lys)

HGVS:

• NC_000014.9:g.92006444A>T
• NG_016970.1:g.38616T>A
• NM_001321851.1:c.1529T>A
• NM_004239.4:c.1532T>AMANE SELECT
• NP_001308780.1:p.Met510Lys
• NP_004230.2:p.Met511Lys
• NC_000014.8:g.92472788A>T

This HGVS expression did not pass validation

Protein change:

M510K

Molecular consequence:

• NM_001321851.1:c.1529T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004239.4:c.1532T>A - missense variant - [Sequence Ontology: SO:0001583]