ClinVar

NM_020547.3(AMHR2):c.425-29C>T

Gene:

AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 53425136 (on Assembly GRCh38)
• Chr12: 53818920 (on Assembly GRCh37)

Preferred name:

NM_020547.3(AMHR2):c.425-29C>T

HGVS:

• NC_000012.12:g.53425136C>T
• NG_015981.1:g.6282C>T
• NM_001164690.2:c.425-29C>T
• NM_001164691.2:c.425-29C>T
• NM_020547.3:c.425-29C>TMANE SELECT
• NC_000012.11:g.53818920C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2071557

NCBI 1000 Genomes Browser:

rs2071557

Molecular consequence:

• NM_001164690.2:c.425-29C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164691.2:c.425-29C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020547.3:c.425-29C>T - intron variant - [Sequence Ontology: SO:0001627]