ClinVar

NM_014361.4(CNTN5):c.3080A>C (p.Gln1027Pro)

Gene:

CNTN5:contactin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.1

Genomic location:

• Chr11: 100350751 (on Assembly GRCh38)
• Chr11: 100221482 (on Assembly GRCh37)

Preferred name:

NM_014361.4(CNTN5):c.3080A>C (p.Gln1027Pro)

HGVS:

• NC_000011.10:g.100350751A>C
• NG_047156.1:g.1334776A>C
• NM_001243270.2:c.3080A>C
• NM_014361.4:c.3080A>CMANE SELECT
• NM_175566.2:c.2858A>C
• NP_001230199.1:p.Gln1027Pro
• NP_055176.1:p.Gln1027Pro
• NP_780775.1:p.Gln953Pro
• NC_000011.9:g.100221482A>C
• NM_014361.3:c.3080A>C

This HGVS expression did not pass validation

Protein change:

Q1027P

Molecular consequence:

• NM_001243270.2:c.3080A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014361.4:c.3080A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_175566.2:c.2858A>C - missense variant - [Sequence Ontology: SO:0001583]