ClinVar

NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 65557854 - 65557855 (on Assembly GRCh38)
• Chr11: 65325325 - 65325326 (on Assembly GRCh37)

Preferred name:

NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup)

Other names:

NM_001130144.2:c.100_105dupCTGCTG; p.Leu34_Leu35dup

HGVS:

• NC_000011.10:g.65557856AGC[12]
• NG_016437.1:g.5345CTG[12]
• NM_001130144.3:c.76CTG[12]MANE SELECT
• NM_001164266.1:c.-272CTG[12]
• NM_021070.4:c.76CTG[12]
• NP_001123616.1:p.Leu34_Leu35dup
• NP_066548.2:p.Leu34_Leu35dup
• NC_000011.9:g.65325325_65325326insCAGCAG
• NC_000011.9:g.65325327AGC[12]

This HGVS expression did not pass validation

Links:

dbSNP: rs71036212

NCBI 1000 Genomes Browser:

rs71036212

Molecular consequence:

• NM_001164266.1:c.-272CTG[12] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001130144.3:c.76CTG[12] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_021070.4:c.76CTG[12] - inframe_insertion - [Sequence Ontology: SO:0001821]