ClinVar

NM_001003800.2(BICD2):c.1707C>T (p.Pro569=)

Gene:

BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 92718938 (on Assembly GRCh38)
• Chr9: 95481220 (on Assembly GRCh37)

Preferred name:

NM_001003800.2(BICD2):c.1707C>T (p.Pro569=)

HGVS:

• NC_000009.12:g.92718938G>A
• NG_033908.1:g.50864C>T
• NM_001003800.2:c.1707C>TMANE SELECT
• NM_015250.4:c.1707C>T
• NP_001003800.1:p.Pro569=
• NP_056065.1:p.Pro569=
• NC_000009.11:g.95481220G>A
• NM_001003800.1:c.1707C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs552160043

NCBI 1000 Genomes Browser:

rs552160043

Molecular consequence:

• NM_001003800.2:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015250.4:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1