ClinVar

NM_001242312.2(FAM124A):c.178C>A (p.Pro60Thr)

Gene:

FAM124A:family with sequence similarity 124 member A [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51251545 (on Assembly GRCh38)
• Chr13: 51825681 (on Assembly GRCh37)

Preferred name:

NM_001242312.2(FAM124A):c.178C>A (p.Pro60Thr)

HGVS:

• NC_000013.11:g.51251545C>A
• NM_001242312.2:c.178C>AMANE SELECT
• NM_001330522.2:c.178C>A
• NM_145019.4:c.286C>A
• NP_001229241.1:p.Pro60Thr
• NP_001317451.1:p.Pro60Thr
• NP_659456.3:p.Pro96Thr
• NC_000013.10:g.51825681C>A
• NM_145019.3:c.286C>A

This HGVS expression did not pass validation

Protein change:

P60T

Molecular consequence:

• NM_001242312.2:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330522.2:c.178C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145019.4:c.286C>A - missense variant - [Sequence Ontology: SO:0001583]