ClinVar

NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)

Gene:

TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 75963382 (on Assembly GRCh38)
• Chr14: 76429725 (on Assembly GRCh37)

Preferred name:

NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)

HGVS:

• NC_000014.9:g.75963382C>T
• NG_011715.1:g.23368G>A
• NM_001329938.2:c.860G>A
• NM_001329939.2:c.860G>A
• NM_003239.5:c.860G>AMANE SELECT
• NP_001316867.1:p.Arg287Gln
• NP_001316868.1:p.Arg287Gln
• NP_003230.1:p.Arg287Gln
• NP_003230.1:p.Arg287Gln
• LRG_399t1:c.860G>A
• LRG_399:g.23368G>A
• LRG_399p1:p.Arg287Gln
• NC_000014.8:g.76429725C>T
• NM_003239.2:c.860G>A

This HGVS expression did not pass validation

Protein change:

R287Q

Molecular consequence:

• NM_001329938.2:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329939.2:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003239.5:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]