ClinVar

NM_003239.5(TGFB3):c.623_624del (p.Val208fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 75971148 - 75971149 (on Assembly GRCh38)
• Chr14: 76437491 - 76437492 (on Assembly GRCh37)

Preferred name:

NM_003239.5(TGFB3):c.623_624del (p.Val208fs)

HGVS:

• NC_000014.9:g.75971148CA[1]
• NG_011715.1:g.15599TG[1]
• NM_001329938.2:c.623_624del
• NM_001329939.2:c.623_624del
• NM_003239.5:c.623_624delMANE SELECT
• NP_001316867.1:p.Val208fs
• NP_001316868.1:p.Val208fs
• NP_003230.1:p.Val208fs
• LRG_399:g.15599TG[1]
• NC_000014.8:g.76437491CA[1]

This HGVS expression did not pass validation

Protein change:

V208fs

Links:

dbSNP: rs2140245174

NCBI 1000 Genomes Browser:

rs2140245174

Molecular consequence:

• NM_001329938.2:c.623_624del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329939.2:c.623_624del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003239.5:c.623_624del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1