ClinVar

NM_001822.7(CHN1):c.1299C>T (p.Asp433=)

Gene:

CHN1:chimerin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 174800197 (on Assembly GRCh38)
• Chr2: 175664925 (on Assembly GRCh37)

Preferred name:

NM_001822.7(CHN1):c.1299C>T (p.Asp433=)

HGVS:

• NC_000002.12:g.174800197G>A
• NG_012642.2:g.210246C>T
• NM_001025201.4:c.1221C>T
• NM_001206602.2:c.924C>T
• NM_001371513.1:c.1299C>T
• NM_001371514.1:c.1350C>T
• NM_001822.7:c.1299C>TMANE SELECT
• NP_001020372.2:p.Asp407=
• NP_001193531.1:p.Asp308=
• NP_001358442.1:p.Asp433=
• NP_001358443.1:p.Asp450=
• NP_001813.1:p.Asp433=
• NC_000002.11:g.175664925G>A
• NG_012642.1:g.210246C>T
• NM_001822.5:c.1299C>T
• NR_038133.2:n.1167C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1326246983

NCBI 1000 Genomes Browser:

rs1326246983

Molecular consequence:

• NR_038133.2:n.1167C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001025201.4:c.1221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206602.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371513.1:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371514.1:c.1350C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001822.7:c.1299C>T - synonymous variant - [Sequence Ontology: SO:0001819]