ClinVar

NM_013275.6(ANKRD11):c.7801A>C (p.Met2601Leu)

Gene:

ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89270822 (on Assembly GRCh38)
• Chr16: 89337230 (on Assembly GRCh37)

Preferred name:

NM_013275.6(ANKRD11):c.7801A>C (p.Met2601Leu)

HGVS:

• NC_000016.10:g.89270822T>G
• NG_032003.2:g.224740A>C
• NM_001256182.2:c.7801A>C
• NM_001256183.2:c.7801A>C
• NM_013275.6:c.7801A>CMANE SELECT
• NP_001243111.1:p.Met2601Leu
• NP_001243112.1:p.Met2601Leu
• NP_037407.4:p.Met2601Leu
• NC_000016.9:g.89337230T>G
• NC_000016.9:g.89337230T>G
• NG_032003.1:g.224740A>C
• NM_013275.5:c.7801A>C

This HGVS expression did not pass validation

Protein change:

M2601L

Links:

dbSNP: rs767216450

NCBI 1000 Genomes Browser:

rs767216450

Molecular consequence:

• NM_001256182.2:c.7801A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256183.2:c.7801A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_013275.6:c.7801A>C - missense variant - [Sequence Ontology: SO:0001583]