ClinVar

NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn)

Genes:

TRAF3IP2:TRAF3 interacting protein 2 [Gene - OMIM - HGNC]
TRAF3IP2-AS1:TRAF3IP2 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 111592059 (on Assembly GRCh38)
• Chr6: 111913262 (on Assembly GRCh37)

Preferred name:

NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn)

Other names:

TRAF3IP2, ASP19ASN (rs33980500)

HGVS:

• NC_000006.12:g.111592059C>T
• NG_032030.2:g.18820G>A
• NM_001164281.3:c.28G>A
• NM_147200.3:c.55G>A
• NM_147686.4:c.28G>AMANE SELECT
• NP_001157753.1:p.Asp10Asn
• NP_671733.2:p.Asp19Asn
• NP_679211.2:p.Asp10Asn
• LRG_1337t1:c.28G>A
• LRG_1337:g.18820G>A
• LRG_1337p1:p.Asp10Asn
• NC_000006.11:g.111913262C>T
• NG_032030.1:g.19216G>A
• NM_147686.3:c.28G>A

This HGVS expression did not pass validation

Protein change:

D10N; ASP19ASN

Links:

OMIM: 607043.0001; dbSNP: rs33980500

NCBI 1000 Genomes Browser:

rs33980500

Molecular consequence:

• NM_001164281.3:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147200.3:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147686.4:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]