ClinVar

NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)

Gene:

DCDC2:doublecortin domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 24301827 (on Assembly GRCh38)
• Chr6: 24302055 (on Assembly GRCh37)

Preferred name:

NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)

HGVS:

• NC_000006.12:g.24301827G>A
• NG_012829.2:g.86466C>T
• NM_001195610.2:c.445C>T
• NM_016356.5:c.445C>TMANE SELECT
• NP_001182539.1:p.Leu149Phe
• NP_057440.2:p.Leu149Phe
• NC_000006.11:g.24302055G>A
• NM_016356.3:c.445C>T

This HGVS expression did not pass validation

Protein change:

L149F

Links:

dbSNP: rs200595563

NCBI 1000 Genomes Browser:

rs200595563

Molecular consequence:

• NM_001195610.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016356.5:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1