ClinVar

NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)

Genes:

EGILA:EGFR interacting lncRNA [Gene - HGNC]
ANG:angiogenin [Gene - OMIM - HGNC]
RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 20693932 (on Assembly GRCh38)
• Chr14: 21162091 (on Assembly GRCh37)

Preferred name:

NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)

HGVS:

• NC_000014.9:g.20693932G>C
• NG_008717.2:g.14756G>C
• NG_033053.1:g.14720G>C
• NM_001097577.3:c.368G>CMANE SELECT
• NM_001145.4:c.368G>C
• NM_001282192.2:c.-18+282G>C
• NM_001282193.2:c.-17-5423G>C
• NM_001385271.1:c.368G>C
• NM_001385272.1:c.368G>C
• NM_001385273.1:c.368G>C
• NM_001385274.1:c.368G>C
• NM_002937.5:c.-17-5423G>CMANE SELECT
• NM_194431.3:c.-18+5058G>C
• NP_001091046.1:p.Gly123Ala
• NP_001136.1:p.Gly123Ala
• NP_001372200.1:p.Gly123Ala
• NP_001372201.1:p.Gly123Ala
• NP_001372202.1:p.Gly123Ala
• NP_001372203.1:p.Gly123Ala
• LRG_653t1:c.368G>C
• LRG_653:g.14756G>C
• LRG_653p1:p.Gly123Ala
• NC_000014.8:g.21162091G>C

This HGVS expression did not pass validation

Protein change:

G123A

Links:

dbSNP: rs535311762

NCBI 1000 Genomes Browser:

rs535311762

Molecular consequence:

• NM_001282192.2:c.-18+282G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282193.2:c.-17-5423G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002937.5:c.-17-5423G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_194431.3:c.-18+5058G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001097577.3:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145.4:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385271.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385272.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385273.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385274.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]