ClinVar

NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 92719395 (on Assembly GRCh38)
• Chr9: 95481677 (on Assembly GRCh37)

Preferred name:

NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly)

HGVS:

• NC_000009.12:g.92719395T>C
• NG_033908.1:g.50407A>G
• NM_001003800.2:c.1250A>GMANE SELECT
• NM_015250.4:c.1250A>G
• NP_001003800.1:p.Asp417Gly
• NP_056065.1:p.Asp417Gly
• NC_000009.11:g.95481677T>C
• NM_001003800.1:c.1250A>G

This HGVS expression did not pass validation

Protein change:

D417G

Links:

dbSNP: rs55658812

NCBI 1000 Genomes Browser:

rs55658812

Molecular consequence:

• NM_001003800.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015250.4:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]