ClinVar

NM_015971.4(MRPS7):c.83+23C>T

Genes:

GGA3:golgi associated, gamma adaptin ear containing, ARF binding protein 3 [Gene - OMIM - HGNC]
MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75262006 (on Assembly GRCh38)
• Chr17: 73258087 (on Assembly GRCh37)

Preferred name:

NM_015971.4(MRPS7):c.83+23C>T

HGVS:

• NC_000017.11:g.75262006C>T
• NG_139409.2:g.525C>T
• NM_001172703.3:c.-177+276G>A
• NM_001172704.3:c.-228+276G>A
• NM_015971.4:c.83+23C>TMANE SELECT
• NC_000017.10:g.73258087C>T
• NG_139409.1:g.319C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs62085969

NCBI 1000 Genomes Browser:

rs62085969

Molecular consequence:

• NM_001172703.3:c.-177+276G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172704.3:c.-228+276G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015971.4:c.83+23C>T - intron variant - [Sequence Ontology: SO:0001627]