ClinVar

NM_001099431.1(CLEC1B):c.380G>A (p.Gly127Glu)

Genes:

CLEC1B:C-type lectin domain family 1, member B [Gene - OMIM]
CLEC12A:C-type lectin domain family 12, member A [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 9995206 (on Assembly GRCh38)
• Chr12: 10147805 (on Assembly GRCh37)
• Chr12: 10039072 (on Assembly NCBI36)

Preferred name:

NM_001099431.1(CLEC1B):c.380G>A (p.Gly127Glu)

HGVS:

• NC_000012.12:g.9995206C>T
• NM_001099431.1:c.380G>A
• NM_016509.3:c.479G>A
• NP_001092901.1:p.Gly127Glu
• NP_057593.3:p.Gly160Glu
• NC_000012.10:g.10039072C>T
• NC_000012.11:g.10147805C>T

This HGVS expression did not pass validation

Protein change:

G127E

Links:

dbSNP: rs267603266

NCBI 1000 Genomes Browser:

rs267603266

Molecular consequence:

• NM_001099431.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]