ClinVar

NM_024611.6(ICE2):c.514C>T (p.Arg172Cys)

Gene:

ICE2:interactor of little elongation complex ELL subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 60466608 (on Assembly GRCh38)
• Chr15: 60758807 (on Assembly GRCh37)

Preferred name:

NM_024611.6(ICE2):c.514C>T (p.Arg172Cys)

HGVS:

• NC_000015.10:g.60466608G>A
• NG_054881.1:g.17553C>T
• NM_001018089.3:c.103C>T
• NM_001276385.2:c.514C>T
• NM_024611.6:c.514C>TMANE SELECT
• NP_001018099.1:p.Arg35Cys
• NP_001263314.1:p.Arg172Cys
• NP_078887.2:p.Arg172Cys
• NC_000015.9:g.60758807G>A
• NM_024611.4:c.514C>T
• NR_147171.2:n.586C>T

This HGVS expression did not pass validation

Protein change:

R172C

Molecular consequence:

• NM_001018089.3:c.103C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276385.2:c.514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024611.6:c.514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147171.2:n.586C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]