ClinVar

NM_002386.4(MC1R):c.612C>T (p.Ala204=)

Gene:

MC1R:melanocortin 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89919870 (on Assembly GRCh38)
• Chr16: 89986278 (on Assembly GRCh37)

Preferred name:

NM_002386.4(MC1R):c.612C>T (p.Ala204=)

HGVS:

• NC_000016.10:g.89919870C>T
• NG_012026.1:g.6992C>T
• NG_027810.1:g.2862C>T
• NM_002386.4:c.612C>TMANE SELECT
• NP_002377.4:p.Ala204=
• NC_000016.9:g.89986278C>T
• NM_002386.3:c.612C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs773313328

NCBI 1000 Genomes Browser:

rs773313328

Molecular consequence:

• NM_002386.4:c.612C>T - synonymous variant - [Sequence Ontology: SO:0001819]