ClinVar

NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)

Gene:

KIAA0586:KIAA0586 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

• Chr14: 58428279 (on Assembly GRCh38)
• Chr14: 58894997 (on Assembly GRCh37)

Preferred name:

NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)

HGVS:

• NC_000014.9:g.58428279G>C
• NG_051335.2:g.5895G>C
• NM_001244189.2:c.51G>C
• NM_001244190.2:c.-31G>C
• NM_001244191.2:c.-57+642G>C
• NM_001244192.2:c.-57+642G>C
• NM_001329943.3:c.15G>CMANE SELECT
• NM_001329944.2:c.15G>C
• NM_001329945.2:c.-57+466G>C
• NM_001329946.2:c.15G>C
• NM_001329947.2:c.15G>C
• NM_001364700.1:c.-57+466G>C
• NM_001364701.2:c.-57+466G>C
• NM_014749.5:c.15G>C
• NP_001231118.1:p.Glu17Asp
• NP_001316872.1:p.Glu5Asp
• NP_001316873.1:p.Glu5Asp
• NP_001316875.1:p.Glu5Asp
• NP_001316876.1:p.Glu5Asp
• NP_055564.3:p.Glu5Asp
• LRG_1096t1:c.51G>C
• LRG_1096t2:c.15G>C
• LRG_1096t3:c.15G>C
• LRG_1096:g.5895G>C
• LRG_1096p1:p.Glu17Asp
• LRG_1096p2:p.Glu5Asp
• LRG_1096p3:p.Glu5Asp
• NC_000014.8:g.58894997G>C
• NM_001244189.1:c.51G>C

This HGVS expression did not pass validation

Protein change:

E17D

Links:

dbSNP: rs199554737

NCBI 1000 Genomes Browser:

rs199554737

Molecular consequence:

• NM_001244190.2:c.-31G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001244191.2:c.-57+642G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001244192.2:c.-57+642G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329945.2:c.-57+466G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364700.1:c.-57+466G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364701.2:c.-57+466G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001244189.2:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329943.3:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329944.2:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329946.2:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329947.2:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014749.5:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1