ClinVar

NM_001130144.3(LTBP3):c.3450C>T (p.Gly1150=)

Gene:

LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 65539817 (on Assembly GRCh38)
• Chr11: 65307288 (on Assembly GRCh37)

Preferred name:

NM_001130144.3(LTBP3):c.3450C>T (p.Gly1150=)

HGVS:

• NC_000011.10:g.65539817G>A
• NG_016437.1:g.23412C>T
• NG_047172.1:g.19753G>A
• NM_001130144.3:c.3450C>TMANE SELECT
• NM_001164266.1:c.2958C>T
• NM_021070.4:c.3309C>T
• NP_001123616.1:p.Gly1150=
• NP_001123616.1:p.Gly1150=
• NP_001157738.1:p.Gly986=
• NP_066548.2:p.Gly1103=
• NC_000011.9:g.65307288G>A
• NC_000011.9:g.65307288G>A
• NM_001130144.2:c.3450C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs988974106

NCBI 1000 Genomes Browser:

rs988974106

Molecular consequence:

• NM_001130144.3:c.3450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164266.1:c.2958C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021070.4:c.3309C>T - synonymous variant - [Sequence Ontology: SO:0001819]