ClinVar

NM_001714.4(BICD1):c.2879G>T (p.Ser960Ile)

Gene:

BICD1:BICD cargo adaptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32377578 (on Assembly GRCh38)
• Chr12: 32530512 (on Assembly GRCh37)

Preferred name:

NM_001714.4(BICD1):c.2879G>T (p.Ser960Ile)

HGVS:

• NC_000012.12:g.32377578G>T
• NM_001003398.3:c.*67G>T
• NM_001354186.2:c.2888G>T
• NM_001354187.2:c.2585G>T
• NM_001354188.2:c.*33G>T
• NM_001413158.1:c.2803G>T
• NM_001413163.1:c.2741G>T
• NM_001413166.1:c.2609G>T
• NM_001413167.1:c.*33G>T
• NM_001413168.1:c.*67G>T
• NM_001413171.1:c.*67G>T
• NM_001413172.1:c.*67G>T
• NM_001714.4:c.2879G>TMANE SELECT
• NP_001341115.1:p.Ser963Ile
• NP_001341116.1:p.Ser862Ile
• NP_001400087.1:p.Ala935Ser
• NP_001400092.1:p.Ser914Ile
• NP_001400095.1:p.Ser870Ile
• NP_001705.2:p.Ser960Ile
• NC_000012.11:g.32530512G>T
• NM_001714.2:c.2879G>T
• NR_148725.2:n.3254G>T

This HGVS expression did not pass validation

Protein change:

A935S

Molecular consequence:

• NM_001003398.3:c.*67G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354188.2:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354186.2:c.2888G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354187.2:c.2585G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413158.1:c.2803G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413163.1:c.2741G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413166.1:c.2609G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001714.4:c.2879G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148725.2:n.3254G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]