ClinVar

NM_001145.4(ANG):c.-41T>C

Genes:

LOC130055270:ATAC-STARR-seq lymphoblastoid active region 8093 [Gene]
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: 20684736 (on Assembly GRCh38)
• Chr14: 21152895 (on Assembly GRCh37)

Preferred name:

NM_001145.4(ANG):c.-41T>C

HGVS:

• NC_000014.9:g.20684736T>C
• NG_008717.2:g.5560T>C
• NG_033053.1:g.5524T>C
• NG_189691.1:g.125T>C
• NM_001145.4:c.-41T>C
• NM_001282192.2:c.-144T>C
• NM_001282193.2:c.-18+40T>C
• NM_001385271.1:c.-165T>C
• NM_001385273.1:c.-19+40T>C
• NM_002937.5:c.-40T>CMANE SELECT
• LRG_653t1:c.-41T>C
• LRG_653:g.5560T>C
• NC_000014.8:g.21152895T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs117978329

NCBI 1000 Genomes Browser:

rs117978329

Molecular consequence:

• NM_001145.4:c.-41T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282192.2:c.-144T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001385271.1:c.-165T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002937.5:c.-40T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282193.2:c.-18+40T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385273.1:c.-19+40T>C - intron variant - [Sequence Ontology: SO:0001627]