ClinVar

NM_003239.5(TGFB3):c.504C>T (p.Ile168=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 75971567 (on Assembly GRCh38)
• Chr14: 76437910 (on Assembly GRCh37)

Preferred name:

NM_003239.5(TGFB3):c.504C>T (p.Ile168=)

HGVS:

• NC_000014.9:g.75971567G>A
• NG_011715.1:g.15183C>T
• NM_001329938.2:c.504C>T
• NM_001329939.2:c.504C>T
• NM_003239.4:c.504C>T
• NM_003239.5:c.504C>TMANE SELECT
• NP_001316867.1:p.Ile168=
• NP_001316868.1:p.Ile168=
• NP_003230.1:p.Ile168=
• LRG_399t1:c.504C>T
• LRG_399:g.15183C>T
• NC_000014.8:g.76437910G>A
• NM_003239.2:c.504C>T
• NM_003239.3:c.504C>T
• NM_003239.5:c.504C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148029842

NCBI 1000 Genomes Browser:

rs148029842

Molecular consequence:

• NM_001329938.2:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329939.2:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003239.5:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]