ClinVar

NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 53424831 (on Assembly GRCh38)
• Chr12: 53818615 (on Assembly GRCh37)

Preferred name:

NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)

HGVS:

• NC_000012.12:g.53424831A>G
• NG_015981.1:g.5977A>G
• NM_001164690.2:c.355A>G
• NM_001164691.2:c.355A>G
• NM_020547.3:c.355A>GMANE SELECT
• NP_001158162.1:p.Asn119Asp
• NP_001158163.1:p.Asn119Asp
• NP_065434.1:p.Asn119Asp
• NC_000012.11:g.53818615A>G

This HGVS expression did not pass validation

Protein change:

N119D

Links:

dbSNP: rs2136943263

NCBI 1000 Genomes Browser:

rs2136943263

Molecular consequence:

• NM_001164690.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164691.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020547.3:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]