ClinVar

NM_183387.3(EML5):c.3123G>T (p.Lys1041Asn)

Gene:

EML5:EMAP like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

• Chr14: 88681891 (on Assembly GRCh38)
• Chr14: 89148235 (on Assembly GRCh37)

Preferred name:

NM_183387.3(EML5):c.3123G>T (p.Lys1041Asn)

HGVS:

• NC_000014.9:g.88681891C>A
• NM_001385116.1:c.3123G>T
• NM_001385117.1:c.3123G>T
• NM_001411033.1:c.3123G>T
• NM_183387.3:c.3123G>TMANE SELECT
• NP_001372045.1:p.Lys1041Asn
• NP_001372046.1:p.Lys1041Asn
• NP_001397962.1:p.Lys1041Asn
• NP_899243.1:p.Lys1041Asn
• NC_000014.8:g.89148235C>A
• NM_183387.2:c.3123G>T

This HGVS expression did not pass validation

Protein change:

K1041N

Molecular consequence:

• NM_001385116.1:c.3123G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385117.1:c.3123G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001411033.1:c.3123G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183387.3:c.3123G>T - missense variant - [Sequence Ontology: SO:0001583]