ClinVar

NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)

Gene:

CAMSAP2:calmodulin regulated spectrin associated protein family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 200857395 (on Assembly GRCh38)
• Chr1: 200826523 (on Assembly GRCh37)

Preferred name:

NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)

HGVS:

• NC_000001.11:g.200857395A>C
• NM_001297707.3:c.4135A>C
• NM_001297708.3:c.4054A>C
• NM_001389638.1:c.4087A>C
• NM_203459.4:c.4102A>CMANE SELECT
• NP_001284636.1:p.Asn1379His
• NP_001284637.1:p.Asn1352His
• NP_001376567.1:p.Asn1363His
• NP_982284.1:p.Asn1368His
• NC_000001.10:g.200826523A>C
• NM_203459.1:c.4102A>C

This HGVS expression did not pass validation

Protein change:

N1352H

Molecular consequence:

• NM_001297707.3:c.4135A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297708.3:c.4054A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001389638.1:c.4087A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_203459.4:c.4102A>C - missense variant - [Sequence Ontology: SO:0001583]